ClinVar Miner

List of variants in gene MYH3 studied for Inborn genetic diseases

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Total variants: 137
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HGVS dbSNP gnomAD frequency
NM_002470.4(MYH3):c.5390G>A (p.Arg1797His) rs138194008 0.00152
NM_002470.4(MYH3):c.166C>G (p.Gln56Glu) rs143973840 0.00056
NM_002470.4(MYH3):c.3137G>A (p.Arg1046Gln) rs142002449 0.00026
NM_002470.4(MYH3):c.4109C>T (p.Ala1370Val) rs200964415 0.00017
NM_002470.4(MYH3):c.4321G>A (p.Ala1441Thr) rs190551597 0.00016
NM_002470.4(MYH3):c.2767G>T (p.Val923Leu) rs746388623 0.00014
NM_002470.4(MYH3):c.2341C>T (p.Arg781Cys) rs372983228 0.00013
NM_002470.4(MYH3):c.3535C>G (p.Leu1179Val) rs375904355 0.00013
NM_002470.4(MYH3):c.4925A>G (p.Lys1642Arg) rs143396252 0.00012
NM_002470.4(MYH3):c.414G>C (p.Glu138Asp) rs143057132 0.00010
NM_002470.4(MYH3):c.5074A>G (p.Thr1692Ala) rs140180067 0.00010
NM_002470.4(MYH3):c.1880C>T (p.Thr627Met) rs370119974 0.00007
NM_002470.4(MYH3):c.3369A>G (p.Ile1123Met) rs769878715 0.00007
NM_002470.4(MYH3):c.4018G>A (p.Asp1340Asn) rs375989909 0.00006
NM_002470.4(MYH3):c.1077C>G (p.His359Gln) rs779028641 0.00005
NM_002470.4(MYH3):c.2377T>G (p.Cys793Gly) rs374382907 0.00005
NM_002470.4(MYH3):c.2813C>T (p.Thr938Met) rs148835368 0.00005
NM_002470.4(MYH3):c.5233G>A (p.Ala1745Thr) rs754751938 0.00005
NM_002470.4(MYH3):c.2486C>T (p.Pro829Leu) rs200652175 0.00004
NM_002470.4(MYH3):c.3502C>T (p.Arg1168Trp) rs771377160 0.00004
NM_002470.4(MYH3):c.3527G>T (p.Arg1176Leu) rs143550129 0.00004
NM_002470.4(MYH3):c.3593C>T (p.Ala1198Val) rs374929326 0.00004
NM_002470.4(MYH3):c.3859G>A (p.Glu1287Lys) rs371145272 0.00004
NM_002470.4(MYH3):c.4013G>A (p.Arg1338His) rs761937084 0.00004
NM_002470.4(MYH3):c.4475C>T (p.Ala1492Val) rs376951520 0.00004
NM_002470.4(MYH3):c.4543G>C (p.Glu1515Gln) rs370151413 0.00004
NM_002470.4(MYH3):c.4819C>T (p.Arg1607Trp) rs143215470 0.00004
NM_002470.4(MYH3):c.892C>T (p.Leu298Phe) rs367711644 0.00004
NM_002470.4(MYH3):c.2342G>A (p.Arg781His) rs138308402 0.00003
NM_002470.4(MYH3):c.251A>G (p.Lys84Arg) rs771125552 0.00003
NM_002470.4(MYH3):c.2555C>T (p.Thr852Ile) rs763698464 0.00003
NM_002470.4(MYH3):c.2749G>A (p.Glu917Lys) rs747225470 0.00003
NM_002470.4(MYH3):c.3139G>A (p.Val1047Ile) rs542491960 0.00003
NM_002470.4(MYH3):c.3286G>A (p.Glu1096Lys) rs936470696 0.00003
NM_002470.4(MYH3):c.3344G>A (p.Arg1115Gln) rs748991696 0.00003
NM_002470.4(MYH3):c.3598A>G (p.Ser1200Gly) rs371764244 0.00003
NM_002470.4(MYH3):c.409C>A (p.Pro137Thr) rs746104304 0.00003
NM_002470.4(MYH3):c.5039A>T (p.Asn1680Ile) rs979326011 0.00003
NM_002470.4(MYH3):c.5179A>G (p.Thr1727Ala) rs180886846 0.00003
NM_002470.4(MYH3):c.5494A>G (p.Lys1832Glu) rs764734875 0.00003
NM_002470.4(MYH3):c.5536C>T (p.Arg1846Trp) rs757418855 0.00003
NM_002470.4(MYH3):c.722A>G (p.Asn241Ser) rs760944957 0.00003
NM_002470.4(MYH3):c.76G>A (p.Glu26Lys) rs759121005 0.00003
NM_002470.4(MYH3):c.3391G>A (p.Ala1131Thr) rs532906457 0.00002
NM_002470.4(MYH3):c.3838C>T (p.Arg1280Cys) rs745487226 0.00002
NM_002470.4(MYH3):c.4820G>A (p.Arg1607Gln) rs768530639 0.00002
NM_002470.4(MYH3):c.5021T>C (p.Ile1674Thr) rs1420430206 0.00002
NM_002470.4(MYH3):c.53G>A (p.Arg18Gln) rs757688928 0.00002
NM_002470.4(MYH3):c.1068C>T (p.Ala356=) rs779864155 0.00001
NM_002470.4(MYH3):c.1249A>T (p.Thr417Ser) rs759276020 0.00001
NM_002470.4(MYH3):c.1642T>A (p.Ser548Thr) rs772077205 0.00001
NM_002470.4(MYH3):c.2030A>G (p.Asn677Ser) rs748649963 0.00001
NM_002470.4(MYH3):c.2186G>A (p.Ser729Asn) rs535930727 0.00001
NM_002470.4(MYH3):c.2396G>A (p.Arg799His) rs745696071 0.00001
NM_002470.4(MYH3):c.2473G>A (p.Val825Ile) rs1303823400 0.00001
NM_002470.4(MYH3):c.256G>A (p.Asp86Asn) rs779714194 0.00001
NM_002470.4(MYH3):c.2870A>G (p.Asp957Gly) rs772174746 0.00001
NM_002470.4(MYH3):c.3104T>G (p.Leu1035Arg) rs748935017 0.00001
NM_002470.4(MYH3):c.3609G>C (p.Glu1203Asp) rs368299686 0.00001
NM_002470.4(MYH3):c.3718T>A (p.Ser1240Thr) rs752510156 0.00001
NM_002470.4(MYH3):c.3830A>G (p.Gln1277Arg) rs1329203346 0.00001
NM_002470.4(MYH3):c.3839G>A (p.Arg1280His) rs148568052 0.00001
NM_002470.4(MYH3):c.3850G>A (p.Glu1284Lys) rs761684970 0.00001
NM_002470.4(MYH3):c.3935A>G (p.Gln1312Arg) rs1471817733 0.00001
NM_002470.4(MYH3):c.4097A>G (p.Asn1366Ser) rs761953625 0.00001
NM_002470.4(MYH3):c.4502G>A (p.Arg1501Gln) rs1409569353 0.00001
NM_002470.4(MYH3):c.4760T>C (p.Leu1587Pro) rs748925984 0.00001
NM_002470.4(MYH3):c.4841G>A (p.Arg1614Gln) rs750163741 0.00001
NM_002470.4(MYH3):c.5010G>T (p.Glu1670Asp) rs1352595435 0.00001
NM_002470.4(MYH3):c.5029C>T (p.Arg1677Cys) rs1468242867 0.00001
NM_002470.4(MYH3):c.5069G>A (p.Arg1690Gln) rs774366569 0.00001
NM_002470.4(MYH3):c.534C>T (p.Thr178=) rs768779720 0.00001
NM_002470.4(MYH3):c.5387A>G (p.His1796Arg) rs761072452 0.00001
NM_002470.4(MYH3):c.5468T>G (p.Leu1823Arg) rs1433891163 0.00001
NM_002470.4(MYH3):c.5528A>G (p.Lys1843Arg) rs1180621599 0.00001
NM_002470.4(MYH3):c.5674G>A (p.Ala1892Thr) rs780846542 0.00001
NM_002470.4(MYH3):c.5786C>T (p.Thr1929Ile) rs867200333 0.00001
NM_002470.4(MYH3):c.755A>T (p.His252Leu) rs146892292 0.00001
NM_002470.4(MYH3):c.856A>G (p.Ile286Val) rs751709861 0.00001
NM_002470.4(MYH3):c.104A>G (p.Lys35Arg) rs1196330551
NM_002470.4(MYH3):c.1181C>T (p.Ser394Leu)
NM_002470.4(MYH3):c.1211G>C (p.Arg404Thr) rs886052584
NM_002470.4(MYH3):c.1510A>G (p.Lys504Glu)
NM_002470.4(MYH3):c.1524G>C (p.Glu508Asp)
NM_002470.4(MYH3):c.164C>G (p.Ser55Cys) rs2508654802
NM_002470.4(MYH3):c.173G>T (p.Gly58Val) rs539620341
NM_002470.4(MYH3):c.1850T>C (p.Leu617Pro)
NM_002470.4(MYH3):c.1882G>A (p.Ala628Thr)
NM_002470.4(MYH3):c.1895G>A (p.Ser632Asn) rs147810911
NM_002470.4(MYH3):c.2109C>G (p.Ile703Met) rs1028328685
NM_002470.4(MYH3):c.2110C>T (p.Arg704Cys) rs749426283
NM_002470.4(MYH3):c.2300A>G (p.Lys767Arg) rs1228696043
NM_002470.4(MYH3):c.2455A>G (p.Ile819Val)
NM_002470.4(MYH3):c.248C>A (p.Pro83His) rs199513213
NM_002470.4(MYH3):c.2755A>G (p.Lys919Glu) rs2508599246
NM_002470.4(MYH3):c.2867A>C (p.Asp956Ala) rs1436860220
NM_002470.4(MYH3):c.2867A>G (p.Asp956Gly) rs1436860220
NM_002470.4(MYH3):c.2868T>G (p.Asp956Glu) rs2508598751
NM_002470.4(MYH3):c.2965A>G (p.Thr989Ala)
NM_002470.4(MYH3):c.3017A>G (p.Gln1006Arg) rs2508597804
NM_002470.4(MYH3):c.3058T>A (p.Ser1020Thr)
NM_002470.4(MYH3):c.3188C>T (p.Ala1063Val) rs1250857874
NM_002470.4(MYH3):c.3201A>G (p.Ile1067Met) rs200537879
NM_002470.4(MYH3):c.3269A>C (p.Gln1090Pro) rs1555525941
NM_002470.4(MYH3):c.3353A>G (p.Glu1118Gly) rs1175337655
NM_002470.4(MYH3):c.3368T>C (p.Ile1123Thr)
NM_002470.4(MYH3):c.3394A>G (p.Lys1132Glu) rs2508593872
NM_002470.4(MYH3):c.3486A>G (p.Ile1162Met) rs2508593295
NM_002470.4(MYH3):c.34A>C (p.Ile12Leu) rs1307651658
NM_002470.4(MYH3):c.353A>G (p.Tyr118Cys) rs2508643811
NM_002470.4(MYH3):c.3751C>T (p.Arg1251Ter) rs1449708494
NM_002470.4(MYH3):c.3890G>A (p.Ser1297Asn)
NM_002470.4(MYH3):c.3976G>T (p.Ala1326Ser)
NM_002470.4(MYH3):c.4030C>A (p.Leu1344Met) rs772283689
NM_002470.4(MYH3):c.4033C>T (p.Arg1345Trp) rs199851477
NM_002470.4(MYH3):c.4034G>A (p.Arg1345Gln)
NM_002470.4(MYH3):c.4180C>G (p.Leu1394Val)
NM_002470.4(MYH3):c.4183G>A (p.Ala1395Thr)
NM_002470.4(MYH3):c.4229C>T (p.Ala1410Val)
NM_002470.4(MYH3):c.425G>C (p.Gly142Ala)
NM_002470.4(MYH3):c.4430C>T (p.Ser1477Phe) rs754188154
NM_002470.4(MYH3):c.4515C>G (p.Asn1505Lys) rs1478332093
NM_002470.4(MYH3):c.4543G>A (p.Glu1515Lys)
NM_002470.4(MYH3):c.4550T>C (p.Ile1517Thr) rs2508576136
NM_002470.4(MYH3):c.4865A>T (p.Asp1622Val)
NM_002470.4(MYH3):c.4930C>T (p.Leu1644Phe)
NM_002470.4(MYH3):c.494T>A (p.Phe165Tyr)
NM_002470.4(MYH3):c.5057T>C (p.Val1686Ala)
NM_002470.4(MYH3):c.5099G>A (p.Arg1700Gln)
NM_002470.4(MYH3):c.5279T>C (p.Ile1760Thr) rs2508566951
NM_002470.4(MYH3):c.5404G>A (p.Glu1802Lys) rs748086358
NM_002470.4(MYH3):c.5561A>G (p.Gln1854Arg)
NM_002470.4(MYH3):c.5605_5659-47del rs1555524879
NM_002470.4(MYH3):c.5722G>C (p.Glu1908Gln) rs369612990
NM_002470.4(MYH3):c.5774C>G (p.Thr1925Ser) rs1597479811
NM_002470.4(MYH3):c.637A>G (p.Met213Val) rs1438039119
NM_002470.4(MYH3):c.706A>C (p.Thr236Pro) rs1555527172

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