Actn3 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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163 records found for search term Actn3

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
401909644	CV2813381	single nucleotide variant	NM_001104.4(ACTN3):c.2176-5G>A	not provided [RCV003398019]	likely benign	11	66562017	66562017	Human		name
405290270	CV3214154	single nucleotide variant	NM_001104.4(ACTN3):c.1678-8G>A	ACTN3-related disorder [RCV003926987]	benign	11	66560565	66560565	Human		name , trait , alternate_id
405270138	CV3215424	single nucleotide variant	NM_001104.4(ACTN3):c.1129-8C>T	ACTN3-related disorder [RCV003949173]	likely benign	11	66558019	66558019	Human		name , trait , alternate_id
401909503	CV2813378	single nucleotide variant	NM_001104.4(ACTN3):c.241C>T (p.Leu81=)	not provided [RCV003398016]	likely benign	11	66551332	66551332	Human		name
401909504	CV2813379	single nucleotide variant	NM_001104.4(ACTN3):c.249G>A (p.Leu83=)	not provided [RCV003398017]	likely benign	11	66551340	66551340	Human		name
156192518	CV2223191	single nucleotide variant	NM_001104.4(ACTN3):c.80T>G (p.Met27Arg)	not specified [RCV004104031]	uncertain significance	11	66547017	66547017	Human		name
401877463	CV2761139	single nucleotide variant	NM_001104.4(ACTN3):c.41A>C (p.Glu14Ala)	not specified [RCV004341028]	uncertain significance	11	66546978	66546978	Human		name
405258225	CV3208283	single nucleotide variant	NM_001104.4(ACTN3):c.741G>A (p.Pro247=)	ACTN3-related disorder [RCV003941712]	likely benign	11	66556167	66556167	Human		name , trait , alternate_id
405760035	CV3303958	single nucleotide variant	NM_001104.4(ACTN3):c.40G>A (p.Glu14Lys)	not specified [RCV004433473]	uncertain significance	11	66546977	66546977	Human		name
597750888	CV3647640	single nucleotide variant	NM_001104.4(ACTN3):c.75G>C (p.Glu25Asp)	not specified [RCV004892651]	uncertain significance	11	66547012	66547012	Human		name
598202002	CV3946466	single nucleotide variant	NM_001104.4(ACTN3):c.65G>A (p.Gly22Glu)	not specified [RCV005314350]	uncertain significance	11	66547002	66547002	Human		name
598202078	CV3946487	single nucleotide variant	NM_001104.4(ACTN3):c.61G>A (p.Gly21Ser)	not specified [RCV005314368]	uncertain significance	11	66546998	66546998	Human		name
8634303	CV89523	single nucleotide variant	NM_001104.3(ACTN3):c.708G>A (p.Leu236=)	Malignant melanoma [RCV000069620]	not provided	11	66555357	66555357	Human		name
155998927	CV2393481	single nucleotide variant	NM_001104.4(ACTN3):c.235C>T (p.Leu79Phe)	not specified [RCV004228971]	uncertain significance	11	66551326	66551326	Human		name
329382191	CV2438548	single nucleotide variant	NM_001104.4(ACTN3):c.143G>A (p.Arg48Gln)	not specified [RCV004261731]	uncertain significance	11	66547080	66547080	Human		name
401909507	CV2813382	single nucleotide variant	NM_001104.4(ACTN3):c.2577C>T (p.Arg859=)	not provided [RCV003398020]	likely benign	11	66563064	66563064	Human		name
405292629	CV3192822	single nucleotide variant	NM_001104.4(ACTN3):c.1200C>A (p.Ile400=)	ACTN3-related disorder [RCV003964610]	likely benign	11	66558098	66558098	Human		name , trait , alternate_id
405280555	CV3195564	single nucleotide variant	NM_001104.4(ACTN3):c.1410G>A (p.Ala470=)	ACTN3-related disorder [RCV003906808]	benign	11	66559369	66559369	Human		name , trait , alternate_id
405276530	CV3198565	single nucleotide variant	NM_001104.4(ACTN3):c.106G>C (p.Asp36His)	ACTN3-related disorder [RCV003903894]	likely benign	11	66547043	66547043	Human		name , trait , alternate_id
405268290	CV3198847	single nucleotide variant	NM_001104.4(ACTN3):c.1692G>A (p.Ala564=)	ACTN3-related disorder [RCV003911966]	likely benign	11	66560587	66560587	Human		name , trait , alternate_id
405275809	CV3199446	single nucleotide variant	NM_001104.4(ACTN3):c.1110C>T (p.Ser370=)	ACTN3-related disorder [RCV003916851]	likely benign	11	66557911	66557911	Human		name , trait , alternate_id
405275205	CV3200077	single nucleotide variant	NM_001104.4(ACTN3):c.1689A>G (p.Thr563=)	ACTN3-related disorder [RCV003974065]	benign	11	66560584	66560584	Human		name , trait , alternate_id
405288949	CV3210007	single nucleotide variant	NM_001104.4(ACTN3):c.1407C>T (p.Ala469=)	ACTN3-related disorder [RCV003961485]	likely benign	11	66559366	66559366	Human		name , trait , alternate_id
405273172	CV3210392	single nucleotide variant	NM_001104.4(ACTN3):c.2397G>A (p.Val799=)	ACTN3-related disorder [RCV003914613]	likely benign	11	66562804	66562804	Human		name , trait , alternate_id
405278423	CV3216639	single nucleotide variant	NM_001104.4(ACTN3):c.1476C>A (p.Ala492=)	ACTN3-related disorder [RCV003954537]	likely benign	11	66560016	66560016	Human		name , trait , alternate_id
405291929	CV3216878	single nucleotide variant	NM_001104.4(ACTN3):c.2322G>A (p.Arg774=)	ACTN3-related disorder [RCV003964297]	benign	11	66562168	66562168	Human	4	name , trait , alternate_id
405745932	CV3303832	single nucleotide variant	NM_001104.4(ACTN3):c.1569G>C (p.Arg523=)	not specified [RCV004431282]	uncertain significance	11	66560203	66560203	Human		name
405745205	CV3303876	single nucleotide variant	NM_001104.4(ACTN3):c.205A>G (p.Ile69Val)	not specified [RCV004431326]	uncertain significance	11	66551296	66551296	Human		name
405759794	CV3303891	single nucleotide variant	NM_001104.4(ACTN3):c.221G>A (p.Arg74His)	not specified [RCV004433406]	uncertain significance	11	66551312	66551312	Human		name
405760696	CV3303930	single nucleotide variant	NM_001104.4(ACTN3):c.269G>A (p.Arg90Lys)	not specified [RCV004433445]	uncertain significance	11	66551534	66551534	Human		name
405760651	CV3303937	single nucleotide variant	NM_001104.4(ACTN3):c.288A>T (p.Lys96Asn)	not specified [RCV004433452]	uncertain significance	11	66551553	66551553	Human		name
597764297	CV3647550	single nucleotide variant	NM_001104.4(ACTN3):c.104G>A (p.Arg35His)	not specified [RCV004895586]	uncertain significance	11	66547041	66547041	Human		name
598202010	CV3946470	single nucleotide variant	NM_001104.4(ACTN3):c.179G>T (p.Arg60Leu)	not specified [RCV005314352]	uncertain significance	11	66551270	66551270	Human		name
156029196	CV2238293	single nucleotide variant	NM_001104.4(ACTN3):c.861G>T (p.Glu287Asp)	not specified [RCV004113371]	uncertain significance	11	66557189	66557189	Human		name
156073454	CV2263795	single nucleotide variant	NM_001104.4(ACTN3):c.422T>C (p.Ile141Thr)	not specified [RCV004136077]	uncertain significance	11	66554084	66554084	Human		name
156181942	CV2298572	single nucleotide variant	NM_001104.4(ACTN3):c.464T>C (p.Val155Ala)	not specified [RCV004162222]	uncertain significance	11	66554126	66554126	Human		name
155922293	CV2340597	single nucleotide variant	NM_001104.4(ACTN3):c.601C>T (p.Arg201Cys)	not specified [RCV004197305]	uncertain significance	11	66555173	66555173	Human		name
156389481	CV2380530	single nucleotide variant	NM_001104.4(ACTN3):c.445G>A (p.Ala149Thr)	not specified [RCV004224857]	uncertain significance	11	66554107	66554107	Human		name
155903373	CV2386494	single nucleotide variant	NM_001104.4(ACTN3):c.904G>A (p.Glu302Lys)	not specified [RCV004230856]	uncertain significance	11	66557705	66557705	Human		name
155903380	CV2386495	single nucleotide variant	NM_001104.4(ACTN3):c.905A>G (p.Glu302Gly)	not specified [RCV004230857]	uncertain significance	11	66557706	66557706	Human		name
329368654	CV2428095	single nucleotide variant	NM_001104.4(ACTN3):c.380A>C (p.Glu127Ala)	not specified [RCV004254468]	uncertain significance	11	66551645	66551645	Human		name
329367131	CV2430908	single nucleotide variant	NM_001104.4(ACTN3):c.853G>A (p.Glu285Lys)	not specified [RCV004248103]	uncertain significance	11	66557181	66557181	Human		name
329390737	CV2437198	single nucleotide variant	NM_001104.4(ACTN3):c.344C>A (p.Ala115Asp)	not specified [RCV004256090]	uncertain significance	11	66551609	66551609	Human		name
401731916	CV2674518	single nucleotide variant	NM_001104.4(ACTN3):c.870G>A (p.Met290Ile)	not specified [RCV004291397]	uncertain significance	11	66557198	66557198	Human		name
401737685	CV2718174	single nucleotide variant	NM_001104.4(ACTN3):c.374G>A (p.Gly125Asp)	not specified [RCV004315874]	uncertain significance	11	66551639	66551639	Human		name
401893219	CV2755317	single nucleotide variant	NM_001104.4(ACTN3):c.773G>A (p.Cys258Tyr)	not specified [RCV004337488]	uncertain significance	11	66556199	66556199	Human		name
401859905	CV2765195	single nucleotide variant	NM_001104.4(ACTN3):c.764A>G (p.Tyr255Cys)	not specified [RCV004339723]	uncertain significance	11	66556190	66556190	Human		name
401890512	CV2778817	single nucleotide variant	NM_001104.4(ACTN3):c.388G>A (p.Val130Ile)	not specified [RCV004346715]	uncertain significance	11	66554050	66554050	Human		name
401909642	CV2813380	single nucleotide variant	NM_001104.4(ACTN3):c.940C>T (p.Arg314Cys)	not provided [RCV003398018]	benign	11	66557741	66557741	Human		name
405260265	CV3190310	single nucleotide variant	NM_001104.4(ACTN3):c.596G>A (p.Arg199Gln)	ACTN3-related disorder [RCV003894708]	likely benign	11	66555168	66555168	Human		name , trait , alternate_id
405287587	CV3210751	single nucleotide variant	NM_001104.4(ACTN3):c.632G>A (p.Arg211Gln)	ACTN3-related disorder [RCV003924504]	benign	11	66555204	66555204	Human		name , trait , alternate_id
405275170	CV3211480	single nucleotide variant	NM_001258371.3(ACTN3):c.252C>T (p.Pro84=)	ACTN3-related disorder [RCV003934383]	benign	11	66546762	66546762	Human		name , trait , alternate_id
405276445	CV3212790	single nucleotide variant	NM_001258371.3(ACTN3):c.243C>G (p.Pro81=)	ACTN3-related disorder [RCV003944733]	benign	11	66546753	66546753	Human		name , trait , alternate_id
405289870	CV3219125	single nucleotide variant	NM_001104.4(ACTN3):c.992G>A (p.Arg331Gln)	ACTN3-related disorder [RCV003962058]	benign	11	66557793	66557793	Human		name , trait , alternate_id
405760010	CV3303954	single nucleotide variant	NM_001104.4(ACTN3):c.394G>A (p.Gly132Arg)	not specified [RCV004433469]	uncertain significance	11	66554056	66554056	Human		name
405760050	CV3303960	single nucleotide variant	NM_001104.4(ACTN3):c.410C>T (p.Thr137Ile)	not specified [RCV004433475]	uncertain significance	11	66554072	66554072	Human		name
405760122	CV3303972	single nucleotide variant	NM_001104.4(ACTN3):c.434T>C (p.Ile145Thr)	not specified [RCV004433487]	uncertain significance	11	66554096	66554096	Human		name
405760188	CV3303984	single nucleotide variant	NM_001104.4(ACTN3):c.703A>T (p.Met235Leu)	not specified [RCV004433499]	uncertain significance	11	66555352	66555352	Human		name
405760221	CV3303990	single nucleotide variant	NM_001104.4(ACTN3):c.761C>A (p.Thr254Asn)	not specified [RCV004433505]	uncertain significance	11	66556187	66556187	Human		name
405760364	CV3304015	single nucleotide variant	NM_001104.4(ACTN3):c.971A>G (p.Gln324Arg)	not specified [RCV004433530]	uncertain significance	11	66557772	66557772	Human		name
407491587	CV3428522	single nucleotide variant	NM_001104.4(ACTN3):c.309A>C (p.Lys103Asn)	not specified [RCV004604734]	uncertain significance	11	66551574	66551574	Human		name
407491694	CV3428574	single nucleotide variant	NM_001104.4(ACTN3):c.985G>A (p.Asp329Asn)	not specified [RCV004604779]	uncertain significance	11	66557786	66557786	Human		name
597750753	CV3647424	single nucleotide variant	NM_001104.4(ACTN3):c.420G>T (p.Met140Ile)	not specified [RCV004892625]	uncertain significance	11	66554082	66554082	Human		name
597764134	CV3647506	single nucleotide variant	NM_001104.4(ACTN3):c.317A>G (p.Asn106Ser)	not specified [RCV004895545]	uncertain significance	11	66551582	66551582	Human		name
597764389	CV3647594	single nucleotide variant	NM_001104.4(ACTN3):c.668T>C (p.Phe223Ser)	not specified [RCV004895610]	uncertain significance	11	66555317	66555317	Human		name
597764538	CV3647650	single nucleotide variant	NM_001104.4(ACTN3):c.884A>C (p.Lys295Thr)	not specified [RCV004895648]	uncertain significance	11	66557212	66557212	Human		name
598189369	CV3946403	single nucleotide variant	NM_001104.4(ACTN3):c.439C>T (p.Arg147Cys)	not specified [RCV005312320]	uncertain significance	11	66554101	66554101	Human		name
126911991	CV1038086	single nucleotide variant	NM_001104.4(ACTN3):c.1237T>C (p.Phe413Leu)	not provided [RCV001355999]\|not specified [RCV004034452]	uncertain significance	11	66558135	66558135	Human		name
156151221	CV2197870	single nucleotide variant	NM_001104.4(ACTN3):c.1445A>G (p.Glu482Gly)	not specified [RCV004077102]	uncertain significance	11	66559985	66559985	Human		name
156377087	CV2206959	single nucleotide variant	NM_001104.4(ACTN3):c.1202G>A (p.Arg401Gln)	not specified [RCV004085581]	uncertain significance	11	66558100	66558100	Human		name
155939073	CV2225318	single nucleotide variant	NM_001104.4(ACTN3):c.2572C>T (p.Arg858Trp)	not specified [RCV004098955]	uncertain significance	11	66563059	66563059	Human		name
156190556	CV2226920	single nucleotide variant	NM_001104.4(ACTN3):c.1542G>A (p.Met514Ile)	not specified [RCV004103891]	uncertain significance	11	66560176	66560176	Human		name
156240927	CV2231317	single nucleotide variant	NM_001104.4(ACTN3):c.2491G>A (p.Glu831Lys)	not specified [RCV004096420]	uncertain significance	11	66562898	66562898	Human		name
156186351	CV2236188	single nucleotide variant	NM_001104.4(ACTN3):c.2614C>T (p.Arg872Cys)	not specified [RCV004107899]	uncertain significance	11	66563101	66563101	Human		name
156043966	CV2237580	single nucleotide variant	NM_001104.4(ACTN3):c.2400G>C (p.Glu800Asp)	not specified [RCV004106518]	uncertain significance	11	66562807	66562807	Human		name
156087940	CV2241363	single nucleotide variant	NM_001104.4(ACTN3):c.2338A>G (p.Met780Val)	not specified [RCV004102497]	uncertain significance	11	66562272	66562272	Human		name
156079524	CV2248541	single nucleotide variant	NM_001104.4(ACTN3):c.1966A>G (p.Ile656Val)	not specified [RCV004119666]	likely benign	11	66561332	66561332	Human		name
156109687	CV2254596	single nucleotide variant	NM_001104.4(ACTN3):c.1151G>A (p.Gly384Glu)	not specified [RCV004123940]	uncertain significance	11	66558049	66558049	Human		name
156071928	CV2255005	single nucleotide variant	NM_001104.4(ACTN3):c.1036T>G (p.Cys346Gly)	not specified [RCV004117229]	uncertain significance	11	66557837	66557837	Human		name
156136008	CV2257026	single nucleotide variant	NM_001104.4(ACTN3):c.1720G>A (p.Glu574Lys)	not specified [RCV004123000]	uncertain significance	11	66560615	66560615	Human		name
156311442	CV2260176	single nucleotide variant	NM_001104.4(ACTN3):c.1111G>A (p.Glu371Lys)	not specified [RCV004120953]	uncertain significance	11	66557912	66557912	Human		name
156046822	CV2268710	single nucleotide variant	NM_001104.4(ACTN3):c.2464A>G (p.Ile822Val)	not specified [RCV004124110]	uncertain significance	11	66562871	66562871	Human		name
156193291	CV2296950	single nucleotide variant	NM_001104.4(ACTN3):c.1903G>A (p.Glu635Lys)	not specified [RCV004149096]	uncertain significance	11	66561269	66561269	Human		name
156193581	CV2301999	single nucleotide variant	NM_001104.4(ACTN3):c.1379C>T (p.Ala460Val)	not specified [RCV004158771]	uncertain significance	11	66559338	66559338	Human		name
155968125	CV2339275	single nucleotide variant	NM_001104.4(ACTN3):c.2432A>G (p.Asn811Ser)	not specified [RCV004191515]	uncertain significance	11	66562839	66562839	Human		name
156279602	CV2348353	single nucleotide variant	NM_001104.4(ACTN3):c.1515G>C (p.Gln505His)	not specified [RCV004193548]	uncertain significance	11	66560055	66560055	Human		name
156076071	CV2350926	single nucleotide variant	NM_001104.4(ACTN3):c.1622G>A (p.Gly541Asp)	not specified [RCV004211758]	uncertain significance	11	66560256	66560256	Human		name
156119304	CV2354042	single nucleotide variant	NM_001104.4(ACTN3):c.1865G>A (p.Arg622Gln)	not specified [RCV004204469]	uncertain significance	11	66561231	66561231	Human		name
155992081	CV2355609	single nucleotide variant	NM_001104.4(ACTN3):c.2663A>G (p.Tyr888Cys)	not specified [RCV004205451]	uncertain significance	11	66563150	66563150	Human		name
156382728	CV2362859	single nucleotide variant	NM_001104.4(ACTN3):c.1240C>T (p.Arg414Trp)	not specified [RCV004208969]	uncertain significance	11	66558138	66558138	Human		name
156338986	CV2370849	single nucleotide variant	NM_001104.4(ACTN3):c.1784C>T (p.Thr595Met)	not specified [RCV004209239]	uncertain significance	11	66560679	66560679	Human		name
156083790	CV2381922	single nucleotide variant	NM_001104.4(ACTN3):c.2563G>A (p.Glu855Lys)	ACTN3-related disorder [RCV003963783]\|not specified [RCV004225860]	likely benign\|uncertain significance	11	66563050	66563050	Human		name , trait , alternate_id
156084772	CV2382019	single nucleotide variant	NM_001104.4(ACTN3):c.2101C>T (p.Arg701Trp)	not specified [RCV004225945]	uncertain significance	11	66561563	66561563	Human		name
156143030	CV2383819	single nucleotide variant	NM_001104.4(ACTN3):c.1949C>T (p.Ala650Val)	not specified [RCV004231687]	uncertain significance	11	66561315	66561315	Human		name
155928988	CV2389034	single nucleotide variant	NM_001104.4(ACTN3):c.1592G>A (p.Arg531Gln)	not specified [RCV004242025]	uncertain significance	11	66560226	66560226	Human		name
156145683	CV2397357	single nucleotide variant	NM_001104.4(ACTN3):c.1937G>A (p.Arg646Gln)	not specified [RCV004238881]	uncertain significance	11	66561303	66561303	Human		name
329357504	CV2427747	single nucleotide variant	NM_001104.4(ACTN3):c.2434G>A (p.Ala812Thr)	not specified [RCV004252531]	uncertain significance	11	66562841	66562841	Human		name
329384957	CV2435112	single nucleotide variant	NM_001104.4(ACTN3):c.1627G>A (p.Val543Met)	not specified [RCV004252757]	uncertain significance	11	66560261	66560261	Human		name
329400133	CV2440526	single nucleotide variant	NM_001104.4(ACTN3):c.2642C>T (p.Ala881Val)	not specified [RCV004256444]	uncertain significance	11	66563129	66563129	Human		name
329377503	CV2453412	single nucleotide variant	NM_001104.4(ACTN3):c.2057G>A (p.Arg686Gln)	not specified [RCV004267026]	uncertain significance	11	66561519	66561519	Human		name
401733253	CV2691247	single nucleotide variant	NM_001104.4(ACTN3):c.1412T>G (p.Leu471Arg)	not specified [RCV004303013]	uncertain significance	11	66559371	66559371	Human		name
401735772	CV2692195	single nucleotide variant	NM_001104.4(ACTN3):c.1305C>A (p.Asp435Glu)	not specified [RCV004301892]	uncertain significance	11	66559264	66559264	Human		name
401726609	CV2695739	single nucleotide variant	NM_001104.4(ACTN3):c.1052A>G (p.Asn351Ser)	not specified [RCV004299539]	uncertain significance	11	66557853	66557853	Human		name
401728643	CV2729712	single nucleotide variant	NM_001104.4(ACTN3):c.1936C>T (p.Arg646Trp)	not specified [RCV004331967]	uncertain significance	11	66561302	66561302	Human		name
405260207	CV3190315	single nucleotide variant	NM_001104.4(ACTN3):c.2567A>T (p.Glu856Val)	ACTN3-related disorder [RCV003894712]	benign	11	66563054	66563054	Human		name , trait , alternate_id
405275961	CV3193218	single nucleotide variant	NM_001104.4(ACTN3):c.1568G>A (p.Arg523Gln)	ACTN3-related disorder [RCV003974384]	benign	11	66560202	66560202	Human		name , trait , alternate_id
405278218	CV3196254	single nucleotide variant	NM_001258371.3(ACTN3):c.34T>C (p.Cys12Arg)	ACTN3-related disorder [RCV003964498]	likely benign	11	66546544	66546544	Human		name , trait , alternate_id
405283719	CV3199707	single nucleotide variant	NM_001104.4(ACTN3):c.1904A>C (p.Glu635Ala)	ACTN3-related disorder [RCV003979369]	benign	11	66561270	66561270	Human		name , trait , alternate_id
405290231	CV3200803	single nucleotide variant	NM_001104.4(ACTN3):c.2327A>G (p.Gln776Arg)	ACTN3-related disorder [RCV003984467]	benign	11	66562261	66562261	Human		name , trait , alternate_id
405257901	CV3207947	single nucleotide variant	NM_001104.4(ACTN3):c.1784C>A (p.Thr595Lys)	ACTN3-related disorder [RCV003941416]	likely benign	11	66560679	66560679	Human		name , trait , alternate_id
405272658	CV3210155	single nucleotide variant	NM_001104.4(ACTN3):c.1249G>T (p.Ala417Ser)	ACTN3-related disorder [RCV003914400]	benign	11	66558147	66558147	Human		name , trait , alternate_id
405287176	CV3210578	single nucleotide variant	NM_001104.4(ACTN3):c.2575C>T (p.Arg859Cys)	ACTN3-related disorder [RCV003924354]	benign	11	66563062	66563062	Human		name , trait , alternate_id
405284363	CV3213736	single nucleotide variant	NM_001104.4(ACTN3):c.2641G>T (p.Ala881Ser)	ACTN3-related disorder [RCV003922294]	likely benign	11	66563128	66563128	Human		name , trait , alternate_id
405277052	CV3217682	single nucleotide variant	NM_001104.4(ACTN3):c.1882T>C (p.Cys628Arg)	ACTN3-related disorder [RCV003974747]	benign	11	66561248	66561248	Human	2	name , trait , alternate_id
405744653	CV3303784	single nucleotide variant	NM_001104.4(ACTN3):c.1175A>G (p.Tyr392Cys)	not specified [RCV004431234]	uncertain significance	11	66558073	66558073	Human		name
405744736	CV3303795	single nucleotide variant	NM_001104.4(ACTN3):c.1286A>T (p.Glu429Val)	not specified [RCV004431245]	uncertain significance	11	66559245	66559245	Human		name
405744875	CV3303811	single nucleotide variant	NM_001104.4(ACTN3):c.1406C>G (p.Ala469Gly)	not specified [RCV004431261]	uncertain significance	11	66559365	66559365	Human		name
405744988	CV3303826	single nucleotide variant	NM_001104.4(ACTN3):c.1492G>T (p.Asp498Tyr)	not specified [RCV004431276]	uncertain significance	11	66560032	66560032	Human		name
405745859	CV3303840	single nucleotide variant	NM_001104.4(ACTN3):c.1598C>T (p.Ala533Val)	not specified [RCV004431290]	uncertain significance	11	66560232	66560232	Human		name
405745775	CV3303850	single nucleotide variant	NM_001104.4(ACTN3):c.1663G>T (p.Val555Leu)	not specified [RCV004431300]	uncertain significance	11	66560297	66560297	Human		name
405745308	CV3303854	single nucleotide variant	NM_001104.4(ACTN3):c.1694A>G (p.His565Arg)	not specified [RCV004431304]	uncertain significance	11	66560589	66560589	Human		name
405745174	CV3303872	single nucleotide variant	NM_001104.4(ACTN3):c.1983G>C (p.Gln661His)	not specified [RCV004431322]	uncertain significance	11	66561349	66561349	Human		name
405759734	CV3303881	single nucleotide variant	NM_001104.4(ACTN3):c.2155C>G (p.His719Asp)	not specified [RCV004433396]	uncertain significance	11	66561617	66561617	Human		name
405759760	CV3303885	single nucleotide variant	NM_001104.4(ACTN3):c.2182C>T (p.Arg728Cys)	not specified [RCV004433400]	uncertain significance	11	66562028	66562028	Human		name
405759960	CV3303922	single nucleotide variant	NM_001104.4(ACTN3):c.2611C>T (p.Arg871Cys)	not specified [RCV004433437]	uncertain significance	11	66563098	66563098	Human		name
405760676	CV3303933	single nucleotide variant	NM_001104.4(ACTN3):c.2701C>T (p.Leu901Phe)	not specified [RCV004433448]	uncertain significance	11	66563188	66563188	Human		name
8566689	CV33351	single nucleotide variant	NM_001104.4(ACTN3):c.1729C>T (p.Arg577Ter)	ACTININ, ALPHA-3 POLYMORPHISM [RCV000019974]\|Actn3 deficiency [RCV000019975]\|INCREASED COLD TOLERANCE [RCV002482891]\|Sprinting performance [RCV000019976]	pathogenic\|likely pathogenic\|association\|affects\|benign\|not provided	11	66560624	66560624	Human	4	name , trait
407491672	CV3428500	single nucleotide variant	NM_001104.4(ACTN3):c.1349G>A (p.Arg450His)	not specified [RCV004604715]	uncertain significance	11	66559308	66559308	Human		name
407491636	CV3428511	single nucleotide variant	NM_001104.4(ACTN3):c.1408G>C (p.Ala470Pro)	not specified [RCV004604723]	uncertain significance	11	66559367	66559367	Human		name
407491425	CV3428532	single nucleotide variant	NM_001104.4(ACTN3):c.2227A>G (p.Asn743Asp)	not specified [RCV004604743]	uncertain significance	11	66562073	66562073	Human		name
407491461	CV3428543	single nucleotide variant	NM_001104.4(ACTN3):c.1549C>T (p.Leu517Phe)	not specified [RCV004604752]	uncertain significance	11	66560183	66560183	Human		name
407491509	CV3428554	single nucleotide variant	NM_001104.4(ACTN3):c.1537C>T (p.Arg513Trp)	not specified [RCV004604762]	uncertain significance	11	66560171	66560171	Human		name
407454569	CV3428564	single nucleotide variant	NM_001104.4(ACTN3):c.2315T>G (p.Phe772Cys)	not specified [RCV004609902]	uncertain significance	11	66562161	66562161	Human		name
407491761	CV3428585	single nucleotide variant	NM_001104.4(ACTN3):c.1861G>A (p.Val621Ile)	not specified [RCV004604789]	uncertain significance	11	66561227	66561227	Human		name
407491805	CV3428596	single nucleotide variant	NM_001104.4(ACTN3):c.1235A>T (p.Lys412Met)	not specified [RCV004604798]	uncertain significance	11	66558133	66558133	Human		name
597750763	CV3647434	single nucleotide variant	NM_001104.4(ACTN3):c.1000C>T (p.Arg334Trp)	not specified [RCV004892627]	uncertain significance	11	66557801	66557801	Human		name
597764023	CV3647452	single nucleotide variant	NM_001104.4(ACTN3):c.1562T>C (p.Ile521Thr)	not specified [RCV004895518]	uncertain significance	11	66560196	66560196	Human		name
597764060	CV3647463	single nucleotide variant	NM_001104.4(ACTN3):c.1883G>A (p.Cys628Tyr)	not specified [RCV004895527]	uncertain significance	11	66561249	66561249	Human		name
597764085	CV3647475	single nucleotide variant	NM_001104.4(ACTN3):c.1832C>T (p.Pro611Leu)	not specified [RCV004895533]	uncertain significance	11	66560727	66560727	Human		name
597764089	CV3647486	single nucleotide variant	NM_001104.4(ACTN3):c.2219G>A (p.Arg740His)	not specified [RCV004895534]	uncertain significance	11	66562065	66562065	Human		name
597764102	CV3647497	single nucleotide variant	NM_001104.4(ACTN3):c.1260C>G (p.His420Gln)	not specified [RCV004895537]	uncertain significance	11	66558158	66558158	Human		name
597750804	CV3647517	single nucleotide variant	NM_001104.4(ACTN3):c.1940G>A (p.Arg647Gln)	not specified [RCV004892635]	uncertain significance	11	66561306	66561306	Human		name
597764212	CV3647528	single nucleotide variant	NM_001104.4(ACTN3):c.2050G>A (p.Gly684Arg)	not specified [RCV004895565]	uncertain significance	11	66561512	66561512	Human		name
597764257	CV3647539	single nucleotide variant	NM_001104.4(ACTN3):c.2584C>G (p.Pro862Ala)	not specified [RCV004895576]	uncertain significance	11	66563071	66563071	Human		name
597764299	CV3647556	single nucleotide variant	NM_001104.4(ACTN3):c.1814C>T (p.Pro605Leu)	not specified [RCV004895587]	uncertain significance	11	66560709	66560709	Human		name
597750814	CV3647565	single nucleotide variant	NM_001104.4(ACTN3):c.1127C>T (p.Ser376Leu)	not specified [RCV004892637]	uncertain significance	11	66557928	66557928	Human		name
597764320	CV3647573	single nucleotide variant	NM_001104.4(ACTN3):c.2638G>A (p.Gly880Arg)	not specified [RCV004895592]	uncertain significance	11	66563125	66563125	Human		name
597764350	CV3647583	single nucleotide variant	NM_001104.4(ACTN3):c.1821C>G (p.Ile607Met)	not specified [RCV004895600]	uncertain significance	11	66560716	66560716	Human		name
597764417	CV3647602	single nucleotide variant	NM_001104.4(ACTN3):c.1735C>G (p.Arg579Gly)	not specified [RCV004895617]	uncertain significance	11	66560630	66560630	Human		name
597764447	CV3647611	single nucleotide variant	NM_001104.4(ACTN3):c.2347G>T (p.Asp783Tyr)	not specified [RCV004895625]	uncertain significance	11	66562281	66562281	Human		name
597750858	CV3647620	single nucleotide variant	NM_001104.4(ACTN3):c.2588C>A (p.Ala863Asp)	not specified [RCV004892645]	uncertain significance	11	66563075	66563075	Human		name
597764489	CV3647630	single nucleotide variant	NM_001104.4(ACTN3):c.1300C>T (p.Arg434Cys)	not specified [RCV004895635]	uncertain significance	11	66559259	66559259	Human		name
598189126	CV3946366	single nucleotide variant	NM_001104.4(ACTN3):c.1079G>A (p.Arg360Gln)	not specified [RCV005312289]	uncertain significance	11	66557880	66557880	Human		name
598211927	CV3946376	single nucleotide variant	NM_001104.4(ACTN3):c.1000C>G (p.Arg334Gly)	not specified [RCV005316090]	uncertain significance	11	66557801	66557801	Human		name
598212002	CV3946420	single nucleotide variant	NM_001104.4(ACTN3):c.1399C>A (p.His467Asn)	not specified [RCV005316100]	uncertain significance	11	66559358	66559358	Human		name
598189599	CV3946447	single nucleotide variant	NM_001104.4(ACTN3):c.1273C>T (p.Arg425Trp)	not specified [RCV005312352]	uncertain significance	11	66558171	66558171	Human		name
598189652	CV3946457	single nucleotide variant	NM_001104.4(ACTN3):c.1292T>C (p.Leu431Pro)	not specified [RCV005312360]	uncertain significance	11	66559251	66559251	Human		name
598202021	CV3946473	single nucleotide variant	NM_001104.4(ACTN3):c.2288A>G (p.Asn763Ser)	not specified [RCV005314355]	uncertain significance	11	66562134	66562134	Human		name
598202034	CV3946476	single nucleotide variant	NM_001104.4(ACTN3):c.2701C>A (p.Leu901Ile)	not specified [RCV005314358]	uncertain significance	11	66563188	66563188	Human		name
598202064	CV3946484	single nucleotide variant	NM_001104.4(ACTN3):c.2228A>G (p.Asn743Ser)	not specified [RCV005314365]	uncertain significance	11	66562074	66562074	Human		name
598202082	CV3946488	single nucleotide variant	NM_001104.4(ACTN3):c.1229C>T (p.Ala410Val)	not specified [RCV005314369]	uncertain significance	11	66558127	66558127	Human		name
598202087	CV3946489	single nucleotide variant	NM_001104.4(ACTN3):c.1691C>T (p.Ala564Val)	not specified [RCV005314370]	uncertain significance	11	66560586	66560586	Human		name
598202106	CV3946494	single nucleotide variant	NM_001104.4(ACTN3):c.2161G>A (p.Val721Ile)	not specified [RCV005314375]	uncertain significance	11	66561623	66561623	Human		name

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