| 15104464 | CV729996 | single nucleotide variant | NM_033467.4(MMEL1):c.2002-5C>T | not provided [RCV000892891] | benign | 1 | 2592725 | 2592725 | Human | | name |
| 15105918 | CV729995 | single nucleotide variant | NM_033467.4(MMEL1):c.2163+10G>A | not provided [RCV000893172] | benign | 1 | 2591922 | 2591922 | Human | | name |
| 150545678 | CV1293886 | single nucleotide variant | NM_033467.4(MMEL1):c.21A>C (p.Pro7=) | not provided [RCV001763067] | benign | 1 | 2629464 | 2629464 | Human | | name |
| 150548913 | CV1293970 | single nucleotide variant | NM_033467.4(MMEL1):c.42C>T (p.Ala14=) | not provided [RCV001764810] | benign | 1 | 2629443 | 2629443 | Human | | name |
| 405654544 | CV3379321 | single nucleotide variant | NM_033467.4(MMEL1):c.26G>C (p.Gly9Ala) | not specified [RCV004510691] | uncertain significance | 1 | 2629459 | 2629459 | Human | | name |
| 597641966 | CV3553865 | single nucleotide variant | NM_033467.4(MMEL1):c.25G>C (p.Gly9Arg) | not specified [RCV004825549] | uncertain significance | 1 | 2629460 | 2629460 | Human | | name |
| 155929189 | CV2369681 | single nucleotide variant | NM_033467.4(MMEL1):c.46C>T (p.Arg16Cys) | not specified [RCV004215081] | uncertain significance | 1 | 2629439 | 2629439 | Human | | name |
| 401775390 | CV2724081 | single nucleotide variant | NM_033467.4(MMEL1):c.83G>T (p.Gly28Val) | not specified [RCV004326225] | uncertain significance | 1 | 2629402 | 2629402 | Human | | name |
| 401935268 | CV2805566 | single nucleotide variant | NM_033467.4(MMEL1):c.663G>A (p.Ala221=) | not provided [RCV003412691] | likely benign | 1 | 2606335 | 2606335 | Human | | name |
| 405661193 | CV3379544 | single nucleotide variant | NM_033467.4(MMEL1):c.65C>T (p.Pro22Leu) | not specified [RCV004513003] | uncertain significance | 1 | 2629420 | 2629420 | Human | | name |
| 407518780 | CV3457486 | single nucleotide variant | NM_033467.4(MMEL1):c.79G>C (p.Gly27Arg) | not specified [RCV004628988] | uncertain significance | 1 | 2629406 | 2629406 | Human | | name |
| 598199980 | CV3989593 | single nucleotide variant | NM_033467.4(MMEL1):c.981C>T (p.Asp327=) | not specified [RCV005375782] | likely benign | 1 | 2603944 | 2603944 | Human | | name |
| 15129593 | CV707292 | single nucleotide variant | NM_033467.4(MMEL1):c.636C>T (p.Leu212=) | not provided [RCV000964284] | benign | 1 | 2606362 | 2606362 | Human | | name |
| 15156508 | CV732345 | single nucleotide variant | NM_033467.4(MMEL1):c.858G>A (p.Thr286=) | not provided [RCV000902343] | likely benign | 1 | 2604240 | 2604240 | Human | | name |
| 329393057 | CV2469258 | single nucleotide variant | NM_033467.4(MMEL1):c.226C>T (p.Pro76Ser) | not specified [RCV004280599] | uncertain significance | 1 | 2612133 | 2612133 | Human | | name |
| 401780997 | CV2734085 | single nucleotide variant | NM_033467.4(MMEL1):c.196C>A (p.Gln66Lys) | not specified [RCV004330641] | likely benign | 1 | 2612163 | 2612163 | Human | | name |
| 401870632 | CV2755958 | single nucleotide variant | NM_033467.4(MMEL1):c.280T>G (p.Cys94Gly) | not specified [RCV004336044] | uncertain significance | 1 | 2611293 | 2611293 | Human | | name |
| 405654451 | CV3379288 | single nucleotide variant | NM_033467.4(MMEL1):c.258C>A (p.Ser86Arg) | not specified [RCV004510658] | uncertain significance | 1 | 2611315 | 2611315 | Human | | name |
| 407518777 | CV3457483 | single nucleotide variant | NM_033467.4(MMEL1):c.202G>A (p.Glu68Lys) | not specified [RCV004628987] | uncertain significance | 1 | 2612157 | 2612157 | Human | | name |
| 407487423 | CV3457485 | single nucleotide variant | NM_033467.4(MMEL1):c.170G>A (p.Arg57His) | not specified [RCV004641063] | uncertain significance | 1 | 2612189 | 2612189 | Human | | name |
| 407487447 | CV3457493 | single nucleotide variant | NM_033467.4(MMEL1):c.268A>C (p.Thr90Pro) | not specified [RCV004641068] | uncertain significance | 1 | 2611305 | 2611305 | Human | | name |
| 408378772 | CV3500967 | single nucleotide variant | NM_033467.4(MMEL1):c.1719G>A (p.Ala573=) | not provided [RCV004722617] | likely benign | 1 | 2594413 | 2594413 | Human | | name |
| 597641946 | CV3553860 | single nucleotide variant | NM_033467.4(MMEL1):c.169C>T (p.Arg57Cys) | not specified [RCV004825546] | uncertain significance | 1 | 2612190 | 2612190 | Human | | name |
| 15099747 | CV696658 | single nucleotide variant | NM_033467.4(MMEL1):c.1491G>A (p.Ala497=) | not provided [RCV000958808] | benign | 1 | 2596018 | 2596018 | Human | | name |
| 15136946 | CV707290 | single nucleotide variant | NM_033467.4(MMEL1):c.1476G>A (p.Glu492=) | not provided [RCV000965533] | benign | 1 | 2596033 | 2596033 | Human | | name |
| 15104467 | CV718869 | single nucleotide variant | NM_033467.4(MMEL1):c.1848G>A (p.Thr616=) | not provided [RCV000892892] | benign | 1 | 2593833 | 2593833 | Human | | name |
| 15179260 | CV732344 | single nucleotide variant | NM_033467.4(MMEL1):c.1075C>T (p.Leu359=) | not provided [RCV000907067] | likely benign | 1 | 2598757 | 2598757 | Human | | name |
| 155932056 | CV2221146 | single nucleotide variant | NM_033467.4(MMEL1):c.905A>T (p.Gln302Leu) | not specified [RCV004094596] | uncertain significance | 1 | 2604193 | 2604193 | Human | | name |
| 155988884 | CV2251259 | single nucleotide variant | NM_033467.4(MMEL1):c.700G>A (p.Asp234Asn) | not specified [RCV004115477] | uncertain significance | 1 | 2606298 | 2606298 | Human | | name |
| 156134531 | CV2284670 | single nucleotide variant | NM_033467.4(MMEL1):c.667A>T (p.Met223Leu) | not specified [RCV004140824] | uncertain significance | 1 | 2606331 | 2606331 | Human | | name |
| 156135600 | CV2284750 | single nucleotide variant | NM_033467.4(MMEL1):c.382G>A (p.Val128Met) | not specified [RCV004140892] | uncertain significance | 1 | 2609742 | 2609742 | Human | | name |
| 401726780 | CV2691840 | single nucleotide variant | NM_033467.4(MMEL1):c.794T>G (p.Phe265Cys) | not specified [RCV004299588] | uncertain significance | 1 | 2605580 | 2605580 | Human | | name |
| 401772030 | CV2723027 | single nucleotide variant | NM_033467.4(MMEL1):c.868G>A (p.Glu290Lys) | not specified [RCV004327195] | uncertain significance | 1 | 2604230 | 2604230 | Human | | name |
| 401729685 | CV2733243 | single nucleotide variant | NM_033467.4(MMEL1):c.782G>A (p.Arg261Gln) | not specified [RCV004332159] | uncertain significance | 1 | 2605592 | 2605592 | Human | | name |
| 401866239 | CV2782800 | single nucleotide variant | NM_033467.4(MMEL1):c.982G>A (p.Val328Ile) | not specified [RCV004361614] | uncertain significance | 1 | 2603943 | 2603943 | Human | | name |
| 405661622 | CV3378402 | single nucleotide variant | NM_033467.4(MMEL1):c.866G>T (p.Arg289Leu) | not specified [RCV004513176] | uncertain significance | 1 | 2604232 | 2604232 | Human | | name |
| 405654834 | CV3379422 | single nucleotide variant | NM_033467.4(MMEL1):c.432C>A (p.Asp144Glu) | not specified [RCV004510792] | uncertain significance | 1 | 2609692 | 2609692 | Human | | name |
| 405660943 | CV3379453 | single nucleotide variant | NM_033467.4(MMEL1):c.433G>A (p.Glu145Lys) | not specified [RCV004512912] | uncertain significance | 1 | 2609691 | 2609691 | Human | | name |
| 405661105 | CV3379513 | single nucleotide variant | NM_033467.4(MMEL1):c.517C>A (p.Arg173Ser) | not specified [RCV004512972] | uncertain significance | 1 | 2609357 | 2609357 | Human | | name |
| 407487426 | CV3457488 | single nucleotide variant | NM_033467.4(MMEL1):c.983T>A (p.Val328Asp) | not specified [RCV004641064] | uncertain significance | 1 | 2603942 | 2603942 | Human | | name |
| 407487432 | CV3457489 | single nucleotide variant | NM_033467.4(MMEL1):c.599C>T (p.Pro200Leu) | not specified [RCV004641065] | uncertain significance | 1 | 2607006 | 2607006 | Human | | name |
| 597641940 | CV3553858 | single nucleotide variant | NM_033467.4(MMEL1):c.319C>T (p.Pro107Ser) | not specified [RCV004825545] | uncertain significance | 1 | 2609805 | 2609805 | Human | | name |
| 597641954 | CV3553862 | single nucleotide variant | NM_033467.4(MMEL1):c.688C>A (p.Arg230Ser) | not specified [RCV004825547] | uncertain significance | 1 | 2606310 | 2606310 | Human | | name |
| 597636760 | CV3553866 | single nucleotide variant | NM_033467.4(MMEL1):c.561G>T (p.Gln187His) | not specified [RCV004824595] | uncertain significance | 1 | 2607044 | 2607044 | Human | | name |
| 597641972 | CV3553867 | single nucleotide variant | NM_033467.4(MMEL1):c.772A>G (p.Met258Val) | not specified [RCV004825550] | uncertain significance | 1 | 2605602 | 2605602 | Human | | name |
| 597641978 | CV3553868 | single nucleotide variant | NM_033467.4(MMEL1):c.910G>A (p.Asp304Asn) | not specified [RCV004825551] | uncertain significance | 1 | 2604188 | 2604188 | Human | | name |
| 598167124 | CV3989585 | single nucleotide variant | NM_033467.4(MMEL1):c.428G>A (p.Arg143His) | not specified [RCV005369463] | uncertain significance | 1 | 2609696 | 2609696 | Human | | name |
| 598167128 | CV3989586 | single nucleotide variant | NM_033467.4(MMEL1):c.537T>G (p.Ser179Arg) | not specified [RCV005369464] | uncertain significance | 1 | 2607068 | 2607068 | Human | | name |
| 598199953 | CV3989587 | single nucleotide variant | NM_033467.4(MMEL1):c.637G>A (p.Glu213Lys) | not specified [RCV005375778] | likely benign | 1 | 2606361 | 2606361 | Human | | name |
| 598167140 | CV3989589 | single nucleotide variant | NM_033467.4(MMEL1):c.736C>T (p.Arg246Trp) | not specified [RCV005369466] | uncertain significance | 1 | 2606262 | 2606262 | Human | | name |
| 598199958 | CV3989590 | single nucleotide variant | NM_033467.4(MMEL1):c.621C>A (p.Asn207Lys) | not specified [RCV005375779] | uncertain significance | 1 | 2606984 | 2606984 | Human | | name |
| 15177555 | CV718870 | single nucleotide variant | NM_033467.4(MMEL1):c.905A>G (p.Gln302Arg) | not provided [RCV000884852] | benign | 1 | 2604193 | 2604193 | Human | | name |
| 15151627 | CV732346 | single nucleotide variant | NM_033467.4(MMEL1):c.772A>C (p.Met258Leu) | not provided [RCV000901403] | benign | 1 | 2605602 | 2605602 | Human | | name |
| 156398749 | CV2194765 | single nucleotide variant | NM_033467.4(MMEL1):c.1978T>C (p.Trp660Arg) | not specified [RCV004075313] | uncertain significance | 1 | 2592856 | 2592856 | Human | | name |
| 156269162 | CV2195070 | single nucleotide variant | NM_033467.4(MMEL1):c.1642G>A (p.Ala548Thr) | not specified [RCV004077981] | uncertain significance | 1 | 2594836 | 2594836 | Human | | name |
| 156366171 | CV2203280 | single nucleotide variant | NM_033467.4(MMEL1):c.1001G>A (p.Arg334Gln) | not specified [RCV004071315] | uncertain significance | 1 | 2603924 | 2603924 | Human | | name |
| 156367531 | CV2203535 | single nucleotide variant | NM_033467.4(MMEL1):c.1834G>A (p.Gly612Arg) | not specified [RCV004072738] | uncertain significance | 1 | 2593847 | 2593847 | Human | | name |
| 156091993 | CV2216701 | single nucleotide variant | NM_033467.4(MMEL1):c.1957T>C (p.Tyr653His) | not specified [RCV004083152] | likely benign | 1 | 2592877 | 2592877 | Human | | name |
| 156123175 | CV2227207 | single nucleotide variant | NM_033467.4(MMEL1):c.2311C>T (p.His771Tyr) | not specified [RCV004091813] | uncertain significance | 1 | 2591019 | 2591019 | Human | | name |
| 156243203 | CV2246328 | single nucleotide variant | NM_033467.4(MMEL1):c.1420A>G (p.Lys474Glu) | not specified [RCV004107772] | uncertain significance | 1 | 2596089 | 2596089 | Human | | name |
| 156016967 | CV2266563 | single nucleotide variant | NM_033467.4(MMEL1):c.1562G>A (p.Arg521His) | not specified [RCV004131115] | likely benign | 1 | 2595298 | 2595298 | Human | | name |
| 156258423 | CV2277743 | single nucleotide variant | NM_033467.4(MMEL1):c.1952T>C (p.Met651Thr) | not specified [RCV004147182] | uncertain significance | 1 | 2592882 | 2592882 | Human | | name |
| 156243405 | CV2283266 | single nucleotide variant | NM_033467.4(MMEL1):c.2024G>C (p.Gly675Ala) | not specified [RCV004145933] | uncertain significance | 1 | 2592698 | 2592698 | Human | | name |
| 155930471 | CV2299922 | single nucleotide variant | NM_033467.4(MMEL1):c.1348G>A (p.Ala450Thr) | not specified [RCV004149057] | uncertain significance | 1 | 2596614 | 2596614 | Human | | name |
| 156346820 | CV2300725 | single nucleotide variant | NM_033467.4(MMEL1):c.2288A>G (p.His763Arg) | not specified [RCV004155661] | uncertain significance | 1 | 2591042 | 2591042 | Human | | name |
| 156049048 | CV2336490 | single nucleotide variant | NM_033467.4(MMEL1):c.1050C>A (p.Asn350Lys) | not specified [RCV004194700] | uncertain significance | 1 | 2598782 | 2598782 | Human | | name |
| 156188567 | CV2346850 | single nucleotide variant | NM_033467.4(MMEL1):c.2296C>T (p.Arg766Trp) | not specified [RCV004199847] | uncertain significance | 1 | 2591034 | 2591034 | Human | | name |
| 155937058 | CV2379949 | single nucleotide variant | NM_033467.4(MMEL1):c.2218G>A (p.Val740Ile) | not specified [RCV004222093] | uncertain significance | 1 | 2591579 | 2591579 | Human | | name |
| 156192597 | CV2388772 | single nucleotide variant | NM_033467.4(MMEL1):c.1205G>A (p.Arg402His) | not specified [RCV004239631] | uncertain significance | 1 | 2598274 | 2598274 | Human | | name |
| 156164879 | CV2389741 | single nucleotide variant | NM_033467.4(MMEL1):c.2275G>A (p.Ala759Thr) | not specified [RCV004243787] | uncertain significance | 1 | 2591055 | 2591055 | Human | | name |
| 156061658 | CV2392023 | single nucleotide variant | NM_033467.4(MMEL1):c.1509C>G (p.Ser503Arg) | not specified [RCV004235876] | uncertain significance | 1 | 2595351 | 2595351 | Human | | name |
| 329374654 | CV2443999 | single nucleotide variant | NM_033467.4(MMEL1):c.2173G>A (p.Gly725Arg) | not specified [RCV004258323] | uncertain significance | 1 | 2591624 | 2591624 | Human | | name |
| 401779378 | CV2680260 | single nucleotide variant | NM_033467.4(MMEL1):c.2083A>G (p.Met695Val) | not specified [RCV004286729] | uncertain significance | 1 | 2592012 | 2592012 | Human | | name |
| 401772806 | CV2712919 | single nucleotide variant | NM_033467.4(MMEL1):c.2231T>C (p.Leu744Pro) | not specified [RCV004314320] | uncertain significance | 1 | 2591566 | 2591566 | Human | | name |
| 401889844 | CV2755047 | single nucleotide variant | NM_033467.4(MMEL1):c.1453G>C (p.Glu485Gln) | not specified [RCV004335202] | uncertain significance | 1 | 2596056 | 2596056 | Human | | name |
| 401870880 | CV2762977 | single nucleotide variant | NM_033467.4(MMEL1):c.1706C>T (p.Ala569Val) | not specified [RCV004342723] | uncertain significance | 1 | 2594426 | 2594426 | Human | | name |
| 405671194 | CV3377188 | single nucleotide variant | NM_033467.4(MMEL1):c.1159A>T (p.Ile387Phe) | not specified [RCV004515221] | uncertain significance | 1 | 2598673 | 2598673 | Human | | name |
| 405671570 | CV3377236 | single nucleotide variant | NM_033467.4(MMEL1):c.1220G>T (p.Arg407Leu) | not specified [RCV004515269] | uncertain significance | 1 | 2598259 | 2598259 | Human | | name |
| 405671846 | CV3377314 | single nucleotide variant | NM_033467.4(MMEL1):c.1453G>A (p.Glu485Lys) | not specified [RCV004515347] | uncertain significance | 1 | 2596056 | 2596056 | Human | | name |
| 405795513 | CV3377384 | single nucleotide variant | NM_033467.4(MMEL1):c.1514G>A (p.Arg505Gln) | not specified [RCV004507396] | uncertain significance | 1 | 2595346 | 2595346 | Human | | name |
| 405795854 | CV3377509 | single nucleotide variant | NM_033467.4(MMEL1):c.1711G>A (p.Val571Ile) | not specified [RCV004507521] | uncertain significance | 1 | 2594421 | 2594421 | Human | | name |
| 405796312 | CV3377571 | single nucleotide variant | NM_033467.4(MMEL1):c.1881C>A (p.Asp627Glu) | not specified [RCV004507583] | uncertain significance | 1 | 2592953 | 2592953 | Human | | name |
| 405670778 | CV3378214 | single nucleotide variant | NM_033467.4(MMEL1):c.1007G>C (p.Gly336Ala) | not specified [RCV004515139] | uncertain significance | 1 | 2603918 | 2603918 | Human | | name |
| 405671149 | CV3378263 | single nucleotide variant | NM_033467.4(MMEL1):c.1084G>A (p.Val362Ile) | not specified [RCV004515188] | uncertain significance | 1 | 2598748 | 2598748 | Human | | name |
| 405654290 | CV3379229 | single nucleotide variant | NM_033467.4(MMEL1):c.2303C>A (p.Thr768Asn) | not specified [RCV004510599] | uncertain significance | 1 | 2591027 | 2591027 | Human | | name |
| 405796076 | CV3379650 | single nucleotide variant | NM_033467.4(MMEL1):c.1913A>C (p.Asn638Thr) | not specified [RCV004507623] | uncertain significance | 1 | 2592921 | 2592921 | Human | | name |
| 405653649 | CV3379914 | single nucleotide variant | NM_033467.4(MMEL1):c.2194G>A (p.Ala732Thr) | not specified [RCV004510354] | uncertain significance | 1 | 2591603 | 2591603 | Human | | name |
| 405653952 | CV3380063 | single nucleotide variant | NM_033467.4(MMEL1):c.2286C>A (p.Phe762Leu) | not specified [RCV004510503] | uncertain significance | 1 | 2591044 | 2591044 | Human | | name |
| 407481159 | CV3457484 | single nucleotide variant | NM_033467.4(MMEL1):c.2332G>A (p.Val778Met) | not specified [RCV004641062] | uncertain significance | 1 | 2590998 | 2590998 | Human | | name |
| 407518783 | CV3457487 | single nucleotide variant | NM_033467.4(MMEL1):c.1720T>A (p.Phe574Ile) | not specified [RCV004628989] | uncertain significance | 1 | 2594412 | 2594412 | Human | | name |
| 407487439 | CV3457490 | single nucleotide variant | NM_033467.4(MMEL1):c.1775C>A (p.Pro592His) | not specified [RCV004641066] | uncertain significance | 1 | 2593906 | 2593906 | Human | | name |
| 407487443 | CV3457491 | single nucleotide variant | NM_033467.4(MMEL1):c.1806G>C (p.Leu602Phe) | not specified [RCV004641067] | uncertain significance | 1 | 2593875 | 2593875 | Human | | name |
| 407518786 | CV3457492 | single nucleotide variant | NM_033467.4(MMEL1):c.2044G>C (p.Gly682Arg) | not specified [RCV004628990] | uncertain significance | 1 | 2592678 | 2592678 | Human | | name |
| 597636737 | CV3553857 | single nucleotide variant | NM_033467.4(MMEL1):c.2087C>T (p.Ala696Val) | not specified [RCV004824591] | uncertain significance | 1 | 2592008 | 2592008 | Human | | name |
| 597636743 | CV3553859 | single nucleotide variant | NM_033467.4(MMEL1):c.2235G>T (p.Lys745Asn) | not specified [RCV004824592] | uncertain significance | 1 | 2591562 | 2591562 | Human | | name |
| 597636748 | CV3553861 | single nucleotide variant | NM_033467.4(MMEL1):c.2188G>A (p.Glu730Lys) | not specified [RCV004824593] | uncertain significance | 1 | 2591609 | 2591609 | Human | | name |
| 597636753 | CV3553863 | single nucleotide variant | NM_033467.4(MMEL1):c.1490C>T (p.Ala497Val) | not specified [RCV004824594] | uncertain significance | 1 | 2596019 | 2596019 | Human | | name |
| 597641959 | CV3553864 | single nucleotide variant | NM_033467.4(MMEL1):c.1477T>A (p.Ser493Thr) | not specified [RCV004825548] | uncertain significance | 1 | 2596032 | 2596032 | Human | | name |
| 597636766 | CV3553869 | single nucleotide variant | NM_033467.4(MMEL1):c.1070C>T (p.Thr357Ile) | not specified [RCV004824596] | uncertain significance | 1 | 2598762 | 2598762 | Human | | name |
| 598167134 | CV3989588 | single nucleotide variant | NM_033467.4(MMEL1):c.1327G>A (p.Val443Ile) | not specified [RCV005369465] | uncertain significance | 1 | 2596635 | 2596635 | Human | | name |
| 598199965 | CV3989591 | single nucleotide variant | NM_033467.4(MMEL1):c.1180A>T (p.Thr394Ser) | not specified [RCV005375780] | uncertain significance | 1 | 2598299 | 2598299 | Human | | name |
| 15153617 | CV718868 | single nucleotide variant | NM_033467.4(MMEL1):c.2033T>C (p.Ile678Thr) | not provided [RCV000880046] | likely benign | 1 | 2592689 | 2592689 | Human | | name |
| 15201564 | CV746392 | single nucleotide variant | NM_033467.4(MMEL1):c.2122G>A (p.Asp708Asn) | not provided [RCV000913175] | benign | 1 | 2591973 | 2591973 | Human | | name |
