ClinVar Miner

List of variants in gene MYH14 reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1198):
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Gene type:
ClinVar version:
Total variants: 150
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HGVS dbSNP gnomAD frequency
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280 0.00303
NM_001145809.2(MYH14):c.*243G>A rs561898739 0.00175
NM_001145809.2(MYH14):c.3825+2T>G rs893114796 0.00102
NM_001145809.2(MYH14):c.1419C>T (p.Arg473=) rs371946306 0.00038
NM_001145809.2(MYH14):c.*738C>T rs540069517 0.00037
NM_001145809.2(MYH14):c.-4+8C>A rs778355560 0.00037
NM_001145809.2(MYH14):c.3850C>T (p.Arg1284Trp) rs201515738 0.00037
NM_001145809.2(MYH14):c.2233-13C>A rs368249273 0.00034
NM_001145809.2(MYH14):c.1026G>A (p.Pro342=) rs368124508 0.00029
NM_001145809.2(MYH14):c.838G>A (p.Val280Ile) rs202246093 0.00028
NM_001145809.2(MYH14):c.1994C>T (p.Ser665Leu) rs373698416 0.00021
NM_001145809.2(MYH14):c.*337C>T rs753307318 0.00020
NM_001145809.2(MYH14):c.3514C>A (p.Arg1172=) rs373919106 0.00016
NM_001145809.2(MYH14):c.1210+12G>A rs367560074 0.00015
NM_001145809.2(MYH14):c.3098C>T (p.Thr1033Met) rs201746408 0.00015
NM_001145809.2(MYH14):c.4666G>A (p.Ala1556Thr) rs758725143 0.00015
NM_001145809.2(MYH14):c.560A>G (p.Gln187Arg) rs199583971 0.00015
NM_001145809.2(MYH14):c.2331C>T (p.Ile777=) rs746261612 0.00014
NM_001145809.2(MYH14):c.526G>A (p.Ala176Thr) rs138001307 0.00014
NM_001145809.2(MYH14):c.1229G>A (p.Arg410His) rs374720181 0.00013
NM_001145809.2(MYH14):c.2864G>A (p.Arg955Gln) rs576611342 0.00013
NM_001145809.2(MYH14):c.1329+7G>A rs374953263 0.00011
NM_001145809.2(MYH14):c.3304C>T (p.Arg1102Trp) rs397516629 0.00011
NM_001145809.2(MYH14):c.4731C>T (p.Ser1577=) rs766728732 0.00011
NM_001145809.2(MYH14):c.5961-10C>T rs776693090 0.00011
NM_001145809.2(MYH14):c.3821G>A (p.Arg1274Gln) rs763472009 0.00010
NM_001145809.2(MYH14):c.5990C>T (p.Thr1997Met) rs201986144 0.00010
NM_001145809.2(MYH14):c.1833C>T (p.Val611=) rs775077510 0.00009
NM_001145809.2(MYH14):c.4156A>T (p.Thr1386Ser) rs377462520 0.00009
NM_001145809.2(MYH14):c.4164G>A (p.Ala1388=) rs573932338 0.00009
NM_001145809.2(MYH14):c.*155T>C rs918532693 0.00008
NM_001145809.2(MYH14):c.3778G>A (p.Gly1260Ser) rs200272339 0.00008
NM_001145809.2(MYH14):c.3883C>T (p.Arg1295Trp) rs372367091 0.00007
NM_001145809.2(MYH14):c.2845C>T (p.Arg949Cys) rs755994602 0.00006
NM_001145809.2(MYH14):c.3772C>T (p.Arg1258Cys) rs201727916 0.00006
NM_001145809.2(MYH14):c.5802C>A (p.Asn1934Lys) rs745991888 0.00006
NM_001145809.2(MYH14):c.3704C>T (p.Thr1235Met) rs200988515 0.00005
NM_001145809.2(MYH14):c.4220G>A (p.Arg1407His) rs553162373 0.00005
NM_001145809.2(MYH14):c.4510C>T (p.Leu1504=) rs765023094 0.00005
NM_001145809.2(MYH14):c.*144C>T rs773312540 0.00004
NM_001145809.2(MYH14):c.1779G>A (p.Pro593=) rs557237074 0.00004
NM_001145809.2(MYH14):c.2114G>A (p.Arg705Gln) rs770353210 0.00004
NM_001145809.2(MYH14):c.2248C>G (p.Pro750Ala) rs552485033 0.00004
NM_001145809.2(MYH14):c.2487G>A (p.Arg829=) rs746813925 0.00004
NM_001145809.2(MYH14):c.2988C>T (p.Ser996=) rs368160641 0.00004
NM_001145809.2(MYH14):c.3434G>A (p.Arg1145Gln) rs373207210 0.00004
NM_001145809.2(MYH14):c.3585G>A (p.Ala1195=) rs368190437 0.00004
NM_001145809.2(MYH14):c.3648G>A (p.Thr1216=) rs769824862 0.00004
NM_001145809.2(MYH14):c.3973C>T (p.Arg1325Trp) rs376705845 0.00004
NM_001145809.2(MYH14):c.4059G>A (p.Ala1353=) rs374065479 0.00004
NM_001145809.2(MYH14):c.4296C>T (p.Ser1432=) rs370811348 0.00004
NM_001145809.2(MYH14):c.5127+12C>T rs373755483 0.00004
NM_001145809.2(MYH14):c.*400T>C rs886054596 0.00003
NM_001145809.2(MYH14):c.*64G>A rs779130953 0.00003
NM_001145809.2(MYH14):c.*667G>A rs886054599 0.00003
NM_001145809.2(MYH14):c.1160C>T (p.Ala387Val) rs201762439 0.00003
NM_001145809.2(MYH14):c.1381C>T (p.Arg461Cys) rs752732851 0.00003
NM_001145809.2(MYH14):c.1631C>T (p.Pro544Leu) rs371300947 0.00003
NM_001145809.2(MYH14):c.1800C>T (p.Ala600=) rs745625855 0.00003
NM_001145809.2(MYH14):c.3259C>T (p.Arg1087Trp) rs368372273 0.00003
NM_001145809.2(MYH14):c.3467+9T>G rs1378826651 0.00003
NM_001145809.2(MYH14):c.3629G>A (p.Arg1210Gln) rs794729639 0.00003
NM_001145809.2(MYH14):c.3884G>A (p.Arg1295Gln) rs377014092 0.00003
NM_001145809.2(MYH14):c.3913C>T (p.Arg1305Cys) rs755704452 0.00003
NM_001145809.2(MYH14):c.4088G>A (p.Arg1363His) rs727504915 0.00003
NM_001145809.2(MYH14):c.4107C>T (p.Ser1369=) rs372927021 0.00003
NM_001145809.2(MYH14):c.4539+10C>T rs561531825 0.00003
NM_001145809.2(MYH14):c.5303G>A (p.Arg1768Gln) rs368770587 0.00003
NM_001145809.2(MYH14):c.1834G>A (p.Asp612Asn) rs571071269 0.00002
NM_001145809.2(MYH14):c.2893G>A (p.Glu965Lys) rs773353115 0.00002
NM_001145809.2(MYH14):c.4259C>T (p.Ala1420Val) rs727503225 0.00002
NM_001145809.2(MYH14):c.4585C>T (p.Arg1529Cys) rs758821769 0.00002
NM_001145809.2(MYH14):c.4610G>A (p.Arg1537Gln) rs752388019 0.00002
NM_001145809.2(MYH14):c.4773C>T (p.Ala1591=) rs746906367 0.00002
NM_001145809.2(MYH14):c.491G>C (p.Gly164Ala) rs774773452 0.00002
NM_001145809.2(MYH14):c.5133G>C (p.Gln1711His) rs202119742 0.00002
NM_001145809.2(MYH14):c.5284C>T (p.Arg1762Trp) rs746211693 0.00002
NM_001145809.2(MYH14):c.5987G>A (p.Arg1996His) rs369111539 0.00002
NM_001145809.2(MYH14):c.6065G>C (p.Gly2022Ala) rs1337213084 0.00002
NM_001145809.2(MYH14):c.*474A>G rs886054597 0.00001
NM_001145809.2(MYH14):c.-3-6C>T rs886054586 0.00001
NM_001145809.2(MYH14):c.-37C>T rs549250648 0.00001
NM_001145809.2(MYH14):c.-48C>T rs1371256666 0.00001
NM_001145809.2(MYH14):c.1295G>A (p.Arg432Gln) rs751011647 0.00001
NM_001145809.2(MYH14):c.1368C>T (p.Tyr456=) rs554040475 0.00001
NM_001145809.2(MYH14):c.1462G>T (p.Ala488Ser) rs887619644 0.00001
NM_001145809.2(MYH14):c.1657-7T>C rs369518939 0.00001
NM_001145809.2(MYH14):c.204G>A (p.Ala68=) rs780560401 0.00001
NM_001145809.2(MYH14):c.2086G>A (p.Asp696Asn) rs539256005 0.00001
NM_001145809.2(MYH14):c.2089G>A (p.Gly697Ser) rs778416774 0.00001
NM_001145809.2(MYH14):c.2126G>A (p.Arg709Gln) rs766802012 0.00001
NM_001145809.2(MYH14):c.2271T>C (p.Leu757=) rs371266692 0.00001
NM_001145809.2(MYH14):c.2839C>T (p.Arg947Cys) rs757658628 0.00001
NM_001145809.2(MYH14):c.2900C>T (p.Thr967Met) rs142134135 0.00001
NM_001145809.2(MYH14):c.3141C>T (p.Leu1047=) rs886054592 0.00001
NM_001145809.2(MYH14):c.3427C>T (p.Leu1143=) rs770366755 0.00001
NM_001145809.2(MYH14):c.3593A>T (p.Gln1198Leu) rs755161446 0.00001
NM_001145809.2(MYH14):c.3868G>A (p.Glu1290Lys) rs1421577105 0.00001
NM_001145809.2(MYH14):c.393C>T (p.Ser131=) rs778036519 0.00001
NM_001145809.2(MYH14):c.3945G>A (p.Leu1315=) rs769999356 0.00001
NM_001145809.2(MYH14):c.4212C>T (p.Ala1404=) rs774053333 0.00001
NM_001145809.2(MYH14):c.4669C>T (p.Arg1557Cys) rs780299880 0.00001
NM_001145809.2(MYH14):c.4778G>A (p.Arg1593Gln) rs776185423 0.00001
NM_001145809.2(MYH14):c.535G>A (p.Glu179Lys) rs886054588 0.00001
NM_001145809.2(MYH14):c.5534G>A (p.Arg1845Gln) rs201040702 0.00001
NM_001145809.2(MYH14):c.559C>A (p.Gln187Lys) rs1157237240 0.00001
NM_001145809.2(MYH14):c.5858G>A (p.Arg1953Gln) rs754203387 0.00001
NM_001145809.2(MYH14):c.5875C>T (p.Arg1959Trp) rs758424787 0.00001
NM_001145809.2(MYH14):c.652G>A (p.Val218Met) rs748472752 0.00001
NM_001145809.2(MYH14):c.851T>C (p.Ile284Thr) rs752106950 0.00001
NM_001145809.2(MYH14):c.*142C>G rs770209944
NM_001145809.2(MYH14):c.*531C>T rs886054598
NM_001145809.2(MYH14):c.*604G>A rs2036823566
NM_001145809.2(MYH14):c.-15C>G rs2031567286
NM_001145809.2(MYH14):c.-17G>T rs905967494
NM_001145809.2(MYH14):c.-31C>T rs989700100
NM_001145809.2(MYH14):c.10G>A (p.Val4Met) rs532458856
NM_001145809.2(MYH14):c.1114+13C>G rs11666328
NM_001145809.2(MYH14):c.1586A>C (p.Glu529Ala) rs2034291097
NM_001145809.2(MYH14):c.1843G>T (p.Ala615Ser) rs1322815305
NM_001145809.2(MYH14):c.192G>A (p.Gly64=) rs181055215
NM_001145809.2(MYH14):c.2068C>G (p.Gln690Glu) rs370124751
NM_001145809.2(MYH14):c.2251C>T (p.Arg751Trp) rs772570358
NM_001145809.2(MYH14):c.2257G>T (p.Val753Leu) rs367822041
NM_001145809.2(MYH14):c.2279A>G (p.Asn760Ser) rs886054589
NM_001145809.2(MYH14):c.2383C>A (p.Pro795Thr) rs2034792345
NM_001145809.2(MYH14):c.2429A>C (p.Gln810Pro) rs2034872038
NM_001145809.2(MYH14):c.2505G>A (p.Gln835=) rs781160513
NM_001145809.2(MYH14):c.2599C>T (p.Arg867Cys) rs753356694
NM_001145809.2(MYH14):c.2748C>T (p.Ala916=) rs886054590
NM_001145809.2(MYH14):c.2933T>C (p.Leu978Pro)
NM_001145809.2(MYH14):c.2941G>A (p.Val981Met) rs886054591
NM_001145809.2(MYH14):c.3490C>A (p.Arg1164=) rs984856121
NM_001145809.2(MYH14):c.3603C>T (p.Asp1201=) rs757735473
NM_001145809.2(MYH14):c.4152G>A (p.Glu1384=) rs727504965
NM_001145809.2(MYH14):c.440C>T (p.Pro147Leu) rs886054587
NM_001145809.2(MYH14):c.4624C>T (p.Arg1542Trp) rs553628577
NM_001145809.2(MYH14):c.4645G>A (p.Ala1549Thr) rs2035897043
NM_001145809.2(MYH14):c.4681G>A (p.Glu1561Lys) rs761025607
NM_001145809.2(MYH14):c.4693C>A (p.Arg1565=) rs769989306
NM_001145809.2(MYH14):c.5380G>A (p.Gly1794Arg)
NM_001145809.2(MYH14):c.5384G>A (p.Arg1795His) rs567922009
NM_001145809.2(MYH14):c.547C>T (p.Arg183Trp)
NM_001145809.2(MYH14):c.595G>C (p.Glu199Gln) rs1263172577
NM_001145809.2(MYH14):c.5961-4A>C rs1258855314
NM_001145809.2(MYH14):c.5965G>C (p.Gly1989Arg) rs1409838865
NM_001145809.2(MYH14):c.5981C>A (p.Thr1994Asn)
NM_001145809.2(MYH14):c.6101A>C (p.His2034Pro) rs1215273187
NM_001145809.2(MYH14):c.825C>T (p.Arg275=) rs2033134813
NM_001145809.2(MYH14):c.866T>C (p.Ile289Thr) rs777836668

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