ClinVar Miner

List of variants in gene MYH8, MYHAS studied for congenital limb malformation

Included ClinVar conditions (335):
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Gene type:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_002472.3(MYH8):c.714T>C (p.Thr238=) rs8068729 0.86257
NM_002472.3(MYH8):c.5074T>C (p.Trp1692Arg) rs8069834 0.50046
NM_002472.3(MYH8):c.-31G>A rs2277648 0.30852
NM_002472.3(MYH8):c.5208C>T (p.Asp1736=) rs33969260 0.17467
NM_002472.3(MYH8):c.1907C>T (p.Ala636Val) rs34693726 0.05120
NM_002472.3(MYH8):c.2016C>T (p.Phe672=) rs12936716 0.05000
NM_002472.3(MYH8):c.*76G>C rs3744551 0.02877
NM_002472.3(MYH8):c.1701G>A (p.Gln567=) rs73275411 0.02065
NM_002472.3(MYH8):c.4233C>T (p.Asn1411=) rs138992963 0.01251
NM_002472.3(MYH8):c.3686T>C (p.Met1229Thr) rs35962914 0.00723
NM_002472.3(MYH8):c.3757C>T (p.Arg1253Cys) rs34953692 0.00461
NM_002472.3(MYH8):c.805+9C>T rs75468422 0.00426
NM_002472.3(MYH8):c.1632T>C (p.Pro544=) rs144596237 0.00409
NM_002472.3(MYH8):c.*72T>C rs184845947 0.00388
NM_002472.3(MYH8):c.-93T>G rs113848347 0.00379
NM_002472.3(MYH8):c.4499C>T (p.Thr1500Met) rs73977155 0.00355
NM_002472.3(MYH8):c.225G>C (p.Arg75Ser) rs146732664 0.00220
NM_002472.3(MYH8):c.4813G>A (p.Asp1605Asn) rs139344968 0.00209
NM_002472.3(MYH8):c.143C>T (p.Ser48Phe) rs146669648 0.00111
NM_002472.3(MYH8):c.4042G>A (p.Glu1348Lys) rs140562514 0.00085
NM_002472.3(MYH8):c.954G>C (p.Gln318His) rs142606252 0.00081
NM_002472.3(MYH8):c.4003G>A (p.Ala1335Thr) rs142232788 0.00073
NM_002472.3(MYH8):c.2274A>G (p.Gln758=) rs145901155 0.00065
NM_002472.3(MYH8):c.4878T>C (p.Asn1626=) rs202123184 0.00055
NM_002472.3(MYH8):c.1731G>C (p.Glu577Asp) rs75160168 0.00053
NM_002472.3(MYH8):c.578G>A (p.Arg193His) rs145863180 0.00052
NM_002472.3(MYH8):c.2117G>A (p.Arg706His) rs150351713 0.00051
NM_002472.3(MYH8):c.1318C>T (p.Leu440=) rs141899271 0.00049
NM_002472.3(MYH8):c.4147A>G (p.Ile1383Val) rs138607111 0.00045
NM_002472.3(MYH8):c.1416+11T>G rs186333848 0.00032
NM_002472.3(MYH8):c.5115C>T (p.Ala1705=) rs200890789 0.00028
NM_002472.3(MYH8):c.59G>A (p.Arg20Gln) rs201580344 0.00026
NM_002472.3(MYH8):c.3874C>T (p.Arg1292Ter) rs150008607 0.00024
NM_002472.3(MYH8):c.277A>G (p.Met93Val) rs144036067 0.00021
NM_002472.3(MYH8):c.1067C>T (p.Thr356Ile) rs199851248 0.00019
NM_002472.3(MYH8):c.-65C>T rs143129869 0.00016
NM_002472.3(MYH8):c.1899T>C (p.Asp633=) rs148707844 0.00014
NM_002472.3(MYH8):c.304C>G (p.Pro102Ala) rs149941951 0.00014
NM_002472.3(MYH8):c.1815T>A (p.Asn605Lys) rs151091483 0.00012
NM_002472.3(MYH8):c.4738G>A (p.Ala1580Thr) rs181695343 0.00011
NM_002472.3(MYH8):c.676G>A (p.Ala226Thr) rs140408926 0.00011
NM_002472.3(MYH8):c.1486_1487del (p.Met496fs) rs768299780 0.00010
NM_002472.3(MYH8):c.977T>C (p.Ile326Thr) rs34124921 0.00010
NM_002472.3(MYH8):c.1034C>G (p.Thr345Ser) rs147828853 0.00009
NM_002472.3(MYH8):c.1583A>G (p.Glu528Gly) rs948334773 0.00009
NM_002472.3(MYH8):c.254C>T (p.Pro85Leu) rs375714148 0.00009
NM_002472.3(MYH8):c.4688G>A (p.Arg1563His) rs544591533 0.00009
NM_002472.3(MYH8):c.675C>T (p.Ser225=) rs146651214 0.00009
NM_002472.3(MYH8):c.846G>A (p.Ala282=) rs577298464 0.00008
NM_002472.3(MYH8):c.4433G>A (p.Arg1478His) rs201586936 0.00007
NM_002472.3(MYH8):c.479T>A (p.Ile160Asn) rs760980150 0.00007
NM_002472.3(MYH8):c.-7C>T rs201919885 0.00006
NM_002472.3(MYH8):c.4910G>A (p.Arg1637His) rs886052556 0.00006
NM_002472.3(MYH8):c.501C>T (p.Phe167=) rs772296874 0.00004
NM_002472.3(MYH8):c.5736G>C (p.Arg1912=) rs371556070 0.00004
NM_002472.3(MYH8):c.1833G>A (p.Leu611=) rs202061555 0.00003
NM_002472.3(MYH8):c.1973T>A (p.Leu658Ter) rs746410520 0.00003
NM_002472.3(MYH8):c.4994G>A (p.Arg1665Gln) rs199865613 0.00003
NM_002472.3(MYH8):c.959A>T (p.Glu320Val) rs148448600 0.00003
NM_002472.3(MYH8):c.1150G>A (p.Ala384Thr) rs753001993 0.00002
NM_002472.3(MYH8):c.1432C>T (p.Gln478Ter) rs748598841 0.00002
NM_002472.3(MYH8):c.399G>T (p.Trp133Cys) rs765031203 0.00002
NM_002472.3(MYH8):c.5194A>G (p.Lys1732Glu) rs765715898 0.00002
NM_002472.3(MYH8):c.-31+9T>C rs1181947502 0.00001
NM_002472.3(MYH8):c.1054A>C (p.Ile352Leu) rs759976728 0.00001
NM_002472.3(MYH8):c.1147+14C>G rs1019644932 0.00001
NM_002472.3(MYH8):c.1268T>G (p.Val423Gly) rs747960533 0.00001
NM_002472.3(MYH8):c.1771T>C (p.Tyr591His) rs760777722 0.00001
NM_002472.3(MYH8):c.1989G>A (p.Thr663=) rs886052559 0.00001
NM_002472.3(MYH8):c.2021G>A (p.Arg674Gln) rs121434590 0.00001
NM_002472.3(MYH8):c.2439A>G (p.Ala813=) rs1317249599 0.00001
NM_002472.3(MYH8):c.3703A>G (p.Ser1235Gly) rs199962930 0.00001
NM_002472.3(MYH8):c.605C>T (p.Ala202Val) rs886052561 0.00001
NM_002472.3(MYH8):c.797T>C (p.Ile266Thr) rs753890411 0.00001
NM_002472.3(MYH8):c.840A>G (p.Leu280=) rs763682269 0.00001
NM_002472.3(MYH8):c.*19A>G rs1258001768
NM_002472.3(MYH8):c.*33G>C rs758849889
NM_002472.3(MYH8):c.1009-4G>A rs886052560
NM_002472.3(MYH8):c.1587+4G>A rs368100654
NM_002472.3(MYH8):c.1640C>T (p.Thr547Met) rs149040691
NM_002472.3(MYH8):c.172G>C (p.Glu58Gln) rs2072322757
NM_002472.3(MYH8):c.1803G>T (p.Lys601Asn) rs1260659117
NM_002472.3(MYH8):c.203G>T (p.Gly68Val) rs886052562
NM_002472.3(MYH8):c.2172-4G>T
NM_002472.3(MYH8):c.2317C>T (p.Leu773=) rs1400643420
NM_002472.3(MYH8):c.3643C>A (p.Arg1215=) rs1403404409
NM_002472.3(MYH8):c.3680T>G (p.Leu1227Arg) rs771309686
NM_002472.3(MYH8):c.3735+2T>A rs1567683590
NM_002472.3(MYH8):c.3754T>C (p.Cys1252Arg) rs2072116439
NM_002472.3(MYH8):c.3918G>A (p.Arg1306=) rs747419064
NM_002472.3(MYH8):c.4249C>G (p.Leu1417Val) rs886052558
NM_002472.3(MYH8):c.4692C>A (p.Ile1564=) rs886052557
NM_002472.3(MYH8):c.4724T>C (p.Val1575Ala) rs61730805
NM_002472.3(MYH8):c.4784G>A (p.Arg1595Lys) rs145711576
NM_002472.3(MYH8):c.5025A>G (p.Ala1675=) rs373978447
NM_002472.3(MYH8):c.5112C>A (p.Ile1704=) rs766809648
NM_002472.3(MYH8):c.5166+14A>G rs201762304
NM_002472.3(MYH8):c.76C>A (p.Arg26=) rs746955439
NM_002472.3(MYH8):c.851G>T (p.Arg284Ile) rs1597404672

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