| 405292432 | CV3196304 | single nucleotide variant | NM_153247.4(SLC29A4):c.545-4T>C | SLC29A4-related disorder [RCV003964509] | likely benign | 7 | 5294856 | 5294856 | Human | | name , trait , alternate_id |
| 15104351 | CV777674 | single nucleotide variant | NM_153247.4(SLC29A4):c.882+8C>T | not provided [RCV000959667] | benign | 7 | 5297206 | 5297206 | Human | | name |
| 405293916 | CV3203254 | single nucleotide variant | NM_153247.4(SLC29A4):c.84C>T (p.Phe28=) | SLC29A4-related disorder [RCV003933815] | likely benign | 7 | 5287900 | 5287900 | Human | | name , trait , alternate_id |
| 405292908 | CV3207056 | single nucleotide variant | NM_153247.4(SLC29A4):c.111G>A (p.Ala37=) | SLC29A4-related disorder [RCV003931470] | likely benign | 7 | 5287927 | 5287927 | Human | | name , trait , alternate_id |
| 401908711 | CV2828267 | single nucleotide variant | NM_153247.4(SLC29A4):c.411C>G (p.Thr137=) | SLC29A4-related disorder [RCV003980938]|not provided [RCV003423539] | likely benign | 7 | 5291233 | 5291233 | Human | | name , trait , alternate_id |
| 405287072 | CV3193074 | single nucleotide variant | NM_153247.4(SLC29A4):c.739C>T (p.Leu247=) | SLC29A4-related disorder [RCV003981735] | likely benign | 7 | 5297055 | 5297055 | Human | | name , trait , alternate_id |
| 405288400 | CV3197366 | single nucleotide variant | NM_153247.4(SLC29A4):c.978T>C (p.Asp326=) | SLC29A4-related disorder [RCV003982462] | benign | 7 | 5299083 | 5299083 | Human | | name , trait , alternate_id |
| 405280083 | CV3200306 | single nucleotide variant | NM_153247.4(SLC29A4):c.984G>A (p.Pro328=) | SLC29A4-related disorder [RCV003977205] | likely benign | 7 | 5299089 | 5299089 | Human | | name , trait , alternate_id |
| 405285173 | CV3202492 | single nucleotide variant | NM_153247.4(SLC29A4):c.948C>T (p.Thr316=) | SLC29A4-related disorder [RCV003909754] | likely benign | 7 | 5299053 | 5299053 | Human | | name , trait , alternate_id |
| 405295317 | CV3211244 | single nucleotide variant | NM_153247.4(SLC29A4):c.86A>G (p.Asp29Gly) | SLC29A4-related disorder [RCV003937219] | benign | 7 | 5287902 | 5287902 | Human | | name , trait , alternate_id |
| 405266695 | CV3211939 | single nucleotide variant | NM_153247.4(SLC29A4):c.921A>G (p.Pro307=) | SLC29A4-related disorder [RCV003947207] | likely benign | 7 | 5299026 | 5299026 | Human | | name , trait , alternate_id |
| 405278831 | CV3220478 | single nucleotide variant | NM_153247.4(SLC29A4):c.957C>T (p.Gly319=) | SLC29A4-related disorder [RCV003976670] | benign | 7 | 5299062 | 5299062 | Human | | name , trait , alternate_id |
| 405782907 | CV3322080 | single nucleotide variant | NM_153247.4(SLC29A4):c.85G>A (p.Asp29Asn) | not specified [RCV004458970] | uncertain significance | 7 | 5287901 | 5287901 | Human | | name |
| 598169854 | CV3918479 | single nucleotide variant | NM_153247.4(SLC29A4):c.40G>A (p.Val14Met) | not specified [RCV005284390] | uncertain significance | 7 | 5287856 | 5287856 | Human | | name |
| 15104345 | CV700141 | single nucleotide variant | NM_153247.4(SLC29A4):c.70A>C (p.Met24Leu) | not provided [RCV000959666] | benign | 7 | 5287886 | 5287886 | Human | | name |
| 15104357 | CV700143 | single nucleotide variant | NM_153247.4(SLC29A4):c.894C>A (p.Ala298=) | not provided [RCV000959668] | benign | 7 | 5298999 | 5298999 | Human | | name |
| 15199653 | CV750679 | single nucleotide variant | NM_153247.4(SLC29A4):c.858C>T (p.Asp286=) | not provided [RCV000912614] | benign | 7 | 5297174 | 5297174 | Human | | name |
| 156149504 | CV2234809 | single nucleotide variant | NM_153247.4(SLC29A4):c.175G>A (p.Asp59Asn) | not specified [RCV004113036] | uncertain significance | 7 | 5290737 | 5290737 | Human | | name |
| 155977818 | CV2266450 | single nucleotide variant | NM_153247.4(SLC29A4):c.235G>A (p.Val79Met) | not specified [RCV004131032] | uncertain significance | 7 | 5290797 | 5290797 | Human | | name |
| 156219675 | CV2393625 | single nucleotide variant | NM_153247.4(SLC29A4):c.190G>A (p.Asp64Asn) | not specified [RCV004231437] | uncertain significance | 7 | 5290752 | 5290752 | Human | | name |
| 156159978 | CV2398156 | single nucleotide variant | NM_153247.4(SLC29A4):c.107C>T (p.Ala36Val) | not specified [RCV004241732] | uncertain significance | 7 | 5287923 | 5287923 | Human | | name |
| 329356587 | CV2430823 | single nucleotide variant | NM_153247.4(SLC29A4):c.116C>T (p.Ala39Val) | not specified [RCV004253997] | uncertain significance | 7 | 5287932 | 5287932 | Human | | name |
| 401718867 | CV2679333 | single nucleotide variant | NM_153247.4(SLC29A4):c.218C>T (p.Ala73Val) | not specified [RCV004285872] | uncertain significance | 7 | 5290780 | 5290780 | Human | | name |
| 401888318 | CV2788314 | single nucleotide variant | NM_153247.4(SLC29A4):c.230C>A (p.Ala77Asp) | not specified [RCV004352898] | uncertain significance | 7 | 5290792 | 5290792 | Human | | name |
| 401908712 | CV2828268 | single nucleotide variant | NM_153247.4(SLC29A4):c.1263C>T (p.Ser421=) | not provided [RCV003423540] | likely benign | 7 | 5300475 | 5300475 | Human | | name |
| 405262317 | CV3200094 | single nucleotide variant | NM_153247.4(SLC29A4):c.1056G>C (p.Val352=) | SLC29A4-related disorder [RCV003967258] | likely benign | 7 | 5299274 | 5299274 | Human | | name , trait , alternate_id |
| 405272008 | CV3203084 | single nucleotide variant | NM_153247.4(SLC29A4):c.1122C>T (p.Leu374=) | SLC29A4-related disorder [RCV003914132] | likely benign | 7 | 5299340 | 5299340 | Human | | name , trait , alternate_id |
| 405277002 | CV3214417 | single nucleotide variant | NM_153247.4(SLC29A4):c.1200C>T (p.Phe400=) | SLC29A4-related disorder [RCV003917344]|not provided [RCV004810611] | likely benign | 7 | 5299418 | 5299418 | Human | | name , trait , alternate_id |
| 405258929 | CV3215221 | single nucleotide variant | NM_153247.4(SLC29A4):c.1041C>T (p.Tyr347=) | SLC29A4-related disorder [RCV003942260] | benign | 7 | 5299259 | 5299259 | Human | | name , trait , alternate_id |
| 407509711 | CV3474189 | single nucleotide variant | NM_153247.4(SLC29A4):c.110C>T (p.Ala37Val) | not specified [RCV004672464] | uncertain significance | 7 | 5287926 | 5287926 | Human | | name |
| 408367058 | CV3511796 | single nucleotide variant | NM_153247.4(SLC29A4):c.1497C>T (p.Ser499=) | SLC29A4-related disorder [RCV004757755] | benign | 7 | 5302843 | 5302843 | Human | | name , trait , alternate_id |
| 597755423 | CV3602804 | single nucleotide variant | NM_153247.4(SLC29A4):c.154G>C (p.Ala52Pro) | not specified [RCV004868146] | uncertain significance | 7 | 5287970 | 5287970 | Human | | name |
| 598169851 | CV3918477 | single nucleotide variant | NM_153247.4(SLC29A4):c.143G>T (p.Arg48Met) | not specified [RCV005284389] | uncertain significance | 7 | 5287959 | 5287959 | Human | | name |
| 15164972 | CV711049 | single nucleotide variant | NM_153247.4(SLC29A4):c.1383C>A (p.Gly461=) | SLC29A4-related disorder [RCV003918445]|not provided [RCV000970849] | benign|likely benign | 7 | 5300595 | 5300595 | Human | | name , trait , alternate_id |
| 156269940 | CV2195123 | single nucleotide variant | NM_153247.4(SLC29A4):c.836A>G (p.Tyr279Cys) | not specified [RCV004078029] | uncertain significance | 7 | 5297152 | 5297152 | Human | | name |
| 155918342 | CV2205822 | single nucleotide variant | NM_153247.4(SLC29A4):c.535G>A (p.Gly179Ser) | not specified [RCV004076222] | uncertain significance | 7 | 5291812 | 5291812 | Human | | name |
| 156036010 | CV2208297 | single nucleotide variant | NM_153247.4(SLC29A4):c.775C>G (p.Leu259Val) | not specified [RCV004088736] | uncertain significance | 7 | 5297091 | 5297091 | Human | | name |
| 156237380 | CV2265139 | single nucleotide variant | NM_153247.4(SLC29A4):c.955G>A (p.Gly319Ser) | not specified [RCV004126270] | uncertain significance | 7 | 5299060 | 5299060 | Human | | name |
| 155995364 | CV2286519 | single nucleotide variant | NM_153247.4(SLC29A4):c.787A>C (p.Thr263Pro) | not specified [RCV004140019] | uncertain significance | 7 | 5297103 | 5297103 | Human | | name |
| 156199681 | CV2293825 | single nucleotide variant | NM_153247.4(SLC29A4):c.616G>A (p.Glu206Lys) | not specified [RCV004155092] | uncertain significance | 7 | 5294931 | 5294931 | Human | | name |
| 155968394 | CV2312832 | single nucleotide variant | NM_153247.4(SLC29A4):c.853C>T (p.His285Tyr) | not specified [RCV004171330] | uncertain significance | 7 | 5297169 | 5297169 | Human | | name |
| 156325392 | CV2335256 | single nucleotide variant | NM_153247.4(SLC29A4):c.958G>A (p.Gly320Arg) | not specified [RCV004186824] | uncertain significance | 7 | 5299063 | 5299063 | Human | | name |
| 329360368 | CV2442746 | single nucleotide variant | NM_153247.4(SLC29A4):c.844C>G (p.Arg282Gly) | not specified [RCV004251582] | uncertain significance | 7 | 5297160 | 5297160 | Human | | name |
| 401719810 | CV2675690 | single nucleotide variant | NM_153247.4(SLC29A4):c.361C>T (p.Leu121Phe) | not specified [RCV004287941] | uncertain significance | 7 | 5291183 | 5291183 | Human | | name |
| 401734708 | CV2688597 | single nucleotide variant | NM_153247.4(SLC29A4):c.937C>G (p.His313Asp) | not specified [RCV004301553] | uncertain significance | 7 | 5299042 | 5299042 | Human | | name |
| 401762344 | CV2723406 | single nucleotide variant | NM_153247.4(SLC29A4):c.305C>T (p.Thr102Ile) | not specified [RCV004329611] | uncertain significance | 7 | 5291127 | 5291127 | Human | | name |
| 401899866 | CV2755731 | single nucleotide variant | NM_153247.4(SLC29A4):c.622A>G (p.Thr208Ala) | not specified [RCV004342111] | uncertain significance | 7 | 5296938 | 5296938 | Human | | name |
| 401875092 | CV2791078 | single nucleotide variant | NM_153247.4(SLC29A4):c.601G>C (p.Gly201Arg) | not specified [RCV004356466] | uncertain significance | 7 | 5294916 | 5294916 | Human | | name |
| 405782873 | CV3322074 | single nucleotide variant | NM_153247.4(SLC29A4):c.439C>T (p.Leu147Phe) | not specified [RCV004458964] | uncertain significance | 7 | 5291716 | 5291716 | Human | | name |
| 405782878 | CV3322075 | single nucleotide variant | NM_153247.4(SLC29A4):c.572C>T (p.Thr191Met) | not specified [RCV004458965] | uncertain significance | 7 | 5294887 | 5294887 | Human | | name |
| 405782884 | CV3322076 | single nucleotide variant | NM_153247.4(SLC29A4):c.578T>C (p.Met193Thr) | not specified [RCV004458966] | uncertain significance | 7 | 5294893 | 5294893 | Human | | name |
| 405782889 | CV3322077 | single nucleotide variant | NM_153247.4(SLC29A4):c.596C>T (p.Thr199Met) | not specified [RCV004458967] | uncertain significance | 7 | 5294911 | 5294911 | Human | | name |
| 405782896 | CV3322078 | single nucleotide variant | NM_153247.4(SLC29A4):c.650G>C (p.Arg217Pro) | not specified [RCV004458968] | uncertain significance | 7 | 5296966 | 5296966 | Human | | name |
| 405782902 | CV3322079 | single nucleotide variant | NM_153247.4(SLC29A4):c.709G>C (p.Val237Leu) | not specified [RCV004458969] | uncertain significance | 7 | 5297025 | 5297025 | Human | | name |
| 405782912 | CV3322081 | single nucleotide variant | NM_153247.4(SLC29A4):c.908C>T (p.Pro303Leu) | not specified [RCV004458971] | uncertain significance | 7 | 5299013 | 5299013 | Human | | name |
| 405782917 | CV3322082 | single nucleotide variant | NM_153247.4(SLC29A4):c.917C>G (p.Ser306Cys) | not specified [RCV004458972] | uncertain significance | 7 | 5299022 | 5299022 | Human | | name |
| 405782924 | CV3322083 | single nucleotide variant | NM_153247.4(SLC29A4):c.967A>G (p.Met323Val) | not specified [RCV004458973] | uncertain significance | 7 | 5299072 | 5299072 | Human | | name |
| 407451420 | CV3474187 | single nucleotide variant | NM_153247.4(SLC29A4):c.896C>T (p.Pro299Leu) | not specified [RCV004683661] | uncertain significance | 7 | 5299001 | 5299001 | Human | | name |
| 407509715 | CV3474190 | single nucleotide variant | NM_153247.4(SLC29A4):c.985C>T (p.Arg329Trp) | not specified [RCV004672465] | uncertain significance | 7 | 5299090 | 5299090 | Human | | name |
| 407509729 | CV3474194 | single nucleotide variant | NM_153247.4(SLC29A4):c.361C>G (p.Leu121Val) | not specified [RCV004672468] | uncertain significance | 7 | 5291183 | 5291183 | Human | | name |
| 597755427 | CV3602805 | single nucleotide variant | NM_153247.4(SLC29A4):c.850C>T (p.His284Tyr) | not specified [RCV004868147] | uncertain significance | 7 | 5297166 | 5297166 | Human | | name |
| 597701368 | CV3602807 | single nucleotide variant | NM_153247.4(SLC29A4):c.623C>T (p.Thr208Met) | not specified [RCV004859976] | uncertain significance | 7 | 5296939 | 5296939 | Human | | name |
| 597701374 | CV3602808 | single nucleotide variant | NM_153247.4(SLC29A4):c.319G>A (p.Asp107Asn) | not specified [RCV004859977] | uncertain significance | 7 | 5291141 | 5291141 | Human | | name |
| 597701390 | CV3602810 | single nucleotide variant | NM_153247.4(SLC29A4):c.929G>C (p.Ser310Thr) | not specified [RCV004859979] | uncertain significance | 7 | 5299034 | 5299034 | Human | | name |
| 597756009 | CV3602812 | single nucleotide variant | NM_153247.4(SLC29A4):c.629G>A (p.Gly210Asp) | not specified [RCV004868148] | uncertain significance | 7 | 5296945 | 5296945 | Human | | name |
| 597701408 | CV3602813 | single nucleotide variant | NM_153247.4(SLC29A4):c.623C>A (p.Thr208Lys) | not specified [RCV004859981] | uncertain significance | 7 | 5296939 | 5296939 | Human | | name |
| 598169828 | CV3918468 | single nucleotide variant | NM_153247.4(SLC29A4):c.373G>A (p.Val125Ile) | not specified [RCV005284381] | uncertain significance | 7 | 5291195 | 5291195 | Human | | name |
| 598169834 | CV3918470 | single nucleotide variant | NM_153247.4(SLC29A4):c.678C>G (p.Asp226Glu) | not specified [RCV005284383] | uncertain significance | 7 | 5296994 | 5296994 | Human | | name |
| 598169839 | CV3918472 | single nucleotide variant | NM_153247.4(SLC29A4):c.448A>G (p.Ile150Val) | not specified [RCV005284385] | uncertain significance | 7 | 5291725 | 5291725 | Human | | name |
| 598169842 | CV3918473 | single nucleotide variant | NM_153247.4(SLC29A4):c.688A>G (p.Ser230Gly) | not specified [RCV005284386] | uncertain significance | 7 | 5297004 | 5297004 | Human | | name |
| 598237024 | CV3918478 | single nucleotide variant | NM_153247.4(SLC29A4):c.650G>T (p.Arg217Leu) | not specified [RCV005275571] | uncertain significance | 7 | 5296966 | 5296966 | Human | | name |
| 15201363 | CV700142 | single nucleotide variant | NM_153247.4(SLC29A4):c.766C>T (p.Arg256Cys) | not provided [RCV000957600] | benign|likely benign | 7 | 5297082 | 5297082 | Human | | name |
| 15187317 | CV700144 | single nucleotide variant | NM_153247.4(SLC29A4):c.949G>A (p.Gly317Ser) | not provided [RCV000953550] | benign|likely benign | 7 | 5299054 | 5299054 | Human | | name |
| 156200799 | CV2237747 | single nucleotide variant | NM_153247.4(SLC29A4):c.1529G>A (p.Arg510His) | not specified [RCV004100526] | uncertain significance | 7 | 5302875 | 5302875 | Human | | name |
| 155992627 | CV2286215 | single nucleotide variant | NM_153247.4(SLC29A4):c.1571G>C (p.Gly524Ala) | not specified [RCV004146180] | uncertain significance | 7 | 5302917 | 5302917 | Human | | name |
| 155941263 | CV2294222 | single nucleotide variant | NM_153247.4(SLC29A4):c.1325C>G (p.Ala442Gly) | not specified [RCV004149576] | uncertain significance | 7 | 5300537 | 5300537 | Human | | name |
| 156100882 | CV2294755 | single nucleotide variant | NM_153247.4(SLC29A4):c.1310C>T (p.Pro437Leu) | not specified [RCV004161991] | uncertain significance | 7 | 5300522 | 5300522 | Human | | name |
| 155957198 | CV2304128 | single nucleotide variant | NM_153247.4(SLC29A4):c.1574C>G (p.Ser525Cys) | not specified [RCV004170162] | uncertain significance | 7 | 5302920 | 5302920 | Human | | name |
| 156181438 | CV2320823 | single nucleotide variant | NM_153247.4(SLC29A4):c.1582G>A (p.Ala528Thr) | not specified [RCV004172655] | uncertain significance | 7 | 5302928 | 5302928 | Human | | name |
| 156256646 | CV2322004 | single nucleotide variant | NM_153247.4(SLC29A4):c.1222C>G (p.Leu408Val) | not specified [RCV004173761] | uncertain significance | 7 | 5300434 | 5300434 | Human | | name |
| 156075534 | CV2331742 | single nucleotide variant | NM_153247.4(SLC29A4):c.1331G>A (p.Arg444His) | not specified [RCV004184367] | uncertain significance | 7 | 5300543 | 5300543 | Human | | name |
| 156254732 | CV2359269 | single nucleotide variant | NM_153247.4(SLC29A4):c.1407C>G (p.Ile469Met) | not specified [RCV004212557] | uncertain significance | 7 | 5300619 | 5300619 | Human | | name |
| 156181398 | CV2384069 | single nucleotide variant | NM_153247.4(SLC29A4):c.1238G>A (p.Arg413Gln) | not specified [RCV004225432] | uncertain significance | 7 | 5300450 | 5300450 | Human | | name |
| 156159582 | CV2398124 | single nucleotide variant | NM_153247.4(SLC29A4):c.1001G>A (p.Arg334His) | not specified [RCV004241704] | uncertain significance | 7 | 5299106 | 5299106 | Human | | name |
| 401743439 | CV2715481 | single nucleotide variant | NM_153247.4(SLC29A4):c.1084G>A (p.Val362Met) | SLC29A4-related disorder [RCV003901003]|not specified [RCV004326580] | uncertain significance | 7 | 5299302 | 5299302 | Human | | name , trait , alternate_id |
| 401856857 | CV2755116 | single nucleotide variant | NM_153247.4(SLC29A4):c.1042G>A (p.Val348Met) | not specified [RCV004335266] | uncertain significance | 7 | 5299260 | 5299260 | Human | | name |
| 401908713 | CV2828269 | single nucleotide variant | NM_153247.4(SLC29A4):c.1556C>T (p.Ala519Val) | not provided [RCV003423541] | likely benign | 7 | 5302902 | 5302902 | Human | | name |
| 405782840 | CV3322068 | single nucleotide variant | NM_153247.4(SLC29A4):c.1005C>G (p.Ser335Arg) | not specified [RCV004458958] | uncertain significance | 7 | 5299110 | 5299110 | Human | | name |
| 405782846 | CV3322069 | single nucleotide variant | NM_153247.4(SLC29A4):c.1017C>G (p.Phe339Leu) | not specified [RCV004458959] | uncertain significance | 7 | 5299122 | 5299122 | Human | | name |
| 405782852 | CV3322070 | single nucleotide variant | NM_153247.4(SLC29A4):c.1088C>T (p.Thr363Ile) | not specified [RCV004458960] | uncertain significance | 7 | 5299306 | 5299306 | Human | | name |
| 405782857 | CV3322071 | single nucleotide variant | NM_153247.4(SLC29A4):c.1327C>T (p.Leu443Phe) | not specified [RCV004458961] | uncertain significance | 7 | 5300539 | 5300539 | Human | | name |
| 405782862 | CV3322072 | single nucleotide variant | NM_153247.4(SLC29A4):c.1370G>C (p.Gly457Ala) | not specified [RCV004458962] | uncertain significance | 7 | 5300582 | 5300582 | Human | | name |
| 407509705 | CV3474186 | single nucleotide variant | NM_153247.4(SLC29A4):c.1583C>A (p.Ala528Glu) | not specified [RCV004672462] | uncertain significance | 7 | 5302929 | 5302929 | Human | | name |
| 407509720 | CV3474191 | single nucleotide variant | NM_153247.4(SLC29A4):c.1324G>A (p.Ala442Thr) | not specified [RCV004672466] | uncertain significance | 7 | 5300536 | 5300536 | Human | | name |
| 407451423 | CV3474192 | single nucleotide variant | NM_153247.4(SLC29A4):c.1237C>T (p.Arg413Trp) | not specified [RCV004683662] | uncertain significance | 7 | 5300449 | 5300449 | Human | | name |
| 407509724 | CV3474193 | single nucleotide variant | NM_153247.4(SLC29A4):c.1474A>G (p.Met492Val) | not specified [RCV004672467] | uncertain significance | 7 | 5302820 | 5302820 | Human | | name |
| 408366932 | CV3508751 | single nucleotide variant | NM_153247.4(SLC29A4):c.1589T>G (p.Leu530Arg) | SLC29A4-related disorder [RCV004757664] | uncertain significance | 7 | 5302935 | 5302935 | Human | | name , trait , alternate_id |
| 408367104 | CV3513559 | single nucleotide variant | NM_153247.4(SLC29A4):c.1487C>T (p.Thr496Met) | SLC29A4-related disorder [RCV004757832] | uncertain significance | 7 | 5302833 | 5302833 | Human | | name , trait , alternate_id |
| 597701382 | CV3602809 | single nucleotide variant | NM_153247.4(SLC29A4):c.1052G>A (p.Arg351Gln) | not specified [RCV004859978] | uncertain significance | 7 | 5299270 | 5299270 | Human | | name |
| 597701399 | CV3602811 | single nucleotide variant | NM_153247.4(SLC29A4):c.1367T>C (p.Met456Thr) | not specified [RCV004859980] | uncertain significance | 7 | 5300579 | 5300579 | Human | | name |
| 598169831 | CV3918469 | single nucleotide variant | NM_153247.4(SLC29A4):c.1540G>A (p.Gly514Ser) | not specified [RCV005284382] | likely benign | 7 | 5302886 | 5302886 | Human | | name |
| 598169846 | CV3918474 | single nucleotide variant | NM_153247.4(SLC29A4):c.1070T>G (p.Met357Arg) | not specified [RCV005284387] | uncertain significance | 7 | 5299288 | 5299288 | Human | | name |
| 598169849 | CV3918475 | single nucleotide variant | NM_153247.4(SLC29A4):c.1283T>C (p.Ile428Thr) | not specified [RCV005284388] | uncertain significance | 7 | 5300495 | 5300495 | Human | | name |
| 598237018 | CV3918476 | single nucleotide variant | NM_153247.4(SLC29A4):c.1273G>A (p.Val425Met) | not specified [RCV005275570] | uncertain significance | 7 | 5300485 | 5300485 | Human | | name |
| 15184558 | CV711048 | single nucleotide variant | NM_153247.4(SLC29A4):c.1000C>T (p.Arg334Cys) | not provided [RCV000975144] | benign | 7 | 5299105 | 5299105 | Human | | name |
| 15122301 | CV782877 | single nucleotide variant | NM_153247.4(SLC29A4):c.1562C>T (p.Thr521Ile) | not provided [RCV000979622] | likely benign | 7 | 5302908 | 5302908 | Human | | name |
| 13521337 | CV495589 | duplication | NM_153247.4(SLC29A4):c.116_124dup (p.Ala39_Gln41dup) | not provided [RCV000599370] | uncertain significance | 7 | 5287928 | 5287929 | Human | | name |
| 408367149 | CV3515290 | duplication | NM_153247.4(SLC29A4):c.672_674dup (p.Pro225_Asp226insPro) | SLC29A4-related disorder [RCV004757871] | uncertain significance | 7 | 5296987 | 5296988 | Human | | name , trait , alternate_id |
