ClinVar Miner

List of variants studied for hypertrophic cardiomyopathy by Revvity Omics, Revvity

Included ClinVar conditions (244):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 145
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HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386 0.00280
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala) rs150149784 0.00124
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln) rs139306043 0.00074
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg) rs139425622 0.00066
NM_020778.5(ALPK3):c.1982T>A (p.Met661Lys) rs150227073 0.00046
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816 0.00039
NM_001985.3(ETFB):c.577G>A (p.Ala193Thr) rs200186078 0.00016
NM_006939.4(SOS2):c.599A>G (p.Tyr200Cys) rs148595463 0.00016
NC_000015.10:g.84817000C>T rs373853510 0.00015
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084 0.00014
NM_020778.5(ALPK3):c.175T>C (p.Ser59Pro) rs750401200 0.00014
NM_020778.5(ALPK3):c.3832C>T (p.Arg1278Trp) rs201413329 0.00014
NM_001985.3(ETFB):c.40A>C (p.Ile14Leu) rs148261223 0.00011
NM_020778.5(ALPK3):c.4448A>G (p.Lys1483Arg) rs367667489 0.00011
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930 0.00009
NM_006939.4(SOS2):c.721G>A (p.Glu241Lys) rs148747022 0.00009
NM_004453.4(ETFDH):c.51dup (p.Ala18fs) rs796051964 0.00007
NM_006939.4(SOS2):c.2758A>G (p.Ile920Val) rs755783805 0.00007
NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu) rs398124152 0.00006
NM_006939.4(SOS2):c.674G>A (p.Arg225Gln) rs780580623 0.00006
NM_030662.4(MAP2K2):c.604G>A (p.Val202Met) rs769471250 0.00006
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met) rs113994168 0.00005
NM_020778.5(ALPK3):c.4883C>T (p.Pro1628Leu) rs371706327 0.00005
NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu) rs202220799 0.00005
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter) rs769976586 0.00004
NM_004453.4(ETFDH):c.1351G>C (p.Val451Leu) rs558005496 0.00004
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954 0.00004
NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys) rs780015493 0.00004
NM_016599.5(MYOZ2):c.674C>T (p.Pro225Leu) rs200428820 0.00004
NM_020778.5(ALPK3):c.4200C>G (p.Asp1400Glu) rs372818428 0.00004
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met) rs113994169 0.00003
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014 0.00003
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln) rs534647044 0.00003
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu) rs377656387 0.00003
NM_152594.3(SPRED1):c.371C>T (p.Ser124Phe) rs760132893 0.00003
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp) rs2309689 0.00002
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn) rs104894678 0.00002
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg) rs398123079 0.00001
NM_000018.4(ACADVL):c.1077+1G>T rs140989450 0.00001
NM_000018.4(ACADVL):c.1182+3G>T rs376281637 0.00001
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016 0.00001
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter) rs794727113 0.00001
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu) rs200366828 0.00001
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170 0.00001
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln) rs200771970 0.00001
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp) rs1057520088 0.00001
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791 0.00001
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg) rs398123091 0.00001
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter) rs786204536 0.00001
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln) rs202216257 0.00001
NM_000018.4(ACADVL):c.950T>C (p.Val317Ala) rs398123095 0.00001
NM_001985.3(ETFB):c.490C>T (p.Arg164Trp) rs148045813 0.00001
NM_005343.4(HRAS):c.31G>A (p.Ala11Thr) rs727504496 0.00001
NM_005343.4(HRAS):c.546G>A (p.Met182Ile) rs748639813 0.00001
NM_006939.4(SOS2):c.3698A>C (p.Asn1233Thr) rs201756168 0.00001
NM_007373.4(SHOC2):c.233C>T (p.Ala78Val) rs201197595 0.00001
NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr) rs757240576 0.00001
NM_000018.3(ACADVL):c.1375dup rs796051916
NM_000018.4(ACADVL):c.1055T>C (p.Met352Thr)
NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs) rs1555527532
NM_000018.4(ACADVL):c.1077+1G>A rs140989450
NM_000018.4(ACADVL):c.1194C>G (p.Tyr398Ter)
NM_000018.4(ACADVL):c.1234del (p.Gln412fs)
NM_000018.4(ACADVL):c.1268C>T (p.Ser423Leu) rs1451455641
NM_000018.4(ACADVL):c.1281G>C (p.Trp427Cys) rs1567567312
NM_000018.4(ACADVL):c.1580C>T (p.Pro527Leu)
NM_000018.4(ACADVL):c.1616C>A (p.Ala539Asp) rs781613690
NM_000018.4(ACADVL):c.1630_1645del (p.Ala544fs) rs1131691553
NM_000018.4(ACADVL):c.1751G>A (p.Arg584Lys)
NM_000018.4(ACADVL):c.1801A>G (p.Met601Val)
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter) rs1057520507
NM_000018.4(ACADVL):c.1962C>T (p.Gly654=)
NM_000018.4(ACADVL):c.325G>A (p.Val109Met) rs754207297
NM_000018.4(ACADVL):c.343del rs387906249
NM_000018.4(ACADVL):c.455G>T (p.Gly152Val)
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr) rs375284481
NM_000018.4(ACADVL):c.632_633del (p.Val211fs) rs1489679976
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr) rs140629318
NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter) rs727503788
NM_000018.4(ACADVL):c.753-36C>T
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000018.4(ACADVL):c.856_857del (p.Arg286fs) rs2071269046
NM_000018.4(ACADVL):c.869G>A (p.Gly290Asp)
NM_000018.4(ACADVL):c.869dup (p.Ile291fs) rs886044671
NM_000018.4(ACADVL):c.897G>C (p.Lys299Asn)
NM_000126.4(ETFA):c.15_25dup (p.Gln9fs) rs1384386872
NM_000126.4(ETFA):c.319_322del (p.His107fs) rs866218814
NM_000126.4(ETFA):c.668G>A (p.Arg223Gln)
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del) rs779140971
NM_001281740.3(FHOD3):c.1910G>C (p.Arg637Pro)
NM_001393392.1(AKR1C2):c.827_828del (p.Arg276fs)
NM_001985.3(ETFB):c.284_293del (p.Glu95fs) rs2123587098
NM_002524.5(NRAS):c.*2178G>A rs886045103
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002635.4(SLC25A3):c.544A>G (p.Met182Val)
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_004409.5(DMPK):c.1178C>T (p.Pro393Leu)
NM_004409.5(DMPK):c.1580T>G (p.Leu527Arg)
NM_004409.5(DMPK):c.161-131G>T
NM_004409.5(DMPK):c.1685C>T (p.Pro562Leu)
NM_004409.5(DMPK):c.1754T>C (p.Leu585Pro)
NM_004409.5(DMPK):c.628C>T (p.Arg210Cys)
NM_004409.5(DMPK):c.983G>A (p.Gly328Asp)
NM_004453.4(ETFDH):c.1471_1473delinsCAAAAGCC (p.Ser491fs)
NM_004453.4(ETFDH):c.1487T>C (p.Leu496Pro) rs863224869
NM_004453.4(ETFDH):c.1613_1618del (p.Thr538_Leu539del)
NM_004453.4(ETFDH):c.1648_1649del (p.Leu550fs) rs1469053638
NM_004453.4(ETFDH):c.398_402del (p.Glu133fs) rs2150305310
NM_004453.4(ETFDH):c.405+3A>G rs796051965
NM_004453.4(ETFDH):c.524G>A (p.Arg175His) rs121964955
NM_005343.4(HRAS):c.238T>A (p.Cys80Ser) rs1370566417
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) rs104894230
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.424A>C (p.Ile142Leu) rs1564788848
NM_005343.4(HRAS):c.517C>T (p.Pro173Ser) rs1851178613
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) rs869025194
NM_006912.6(RIT1):c.245T>G (p.Phe82Cys) rs868208063
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006912.6(RIT1):c.365G>A (p.Arg122Gln)
NM_006912.6(RIT1):c.602A>G (p.Asn201Ser)
NM_006939.4(SOS2):c.1024C>A (p.Leu342Met)
NM_006939.4(SOS2):c.1141C>G (p.Leu381Val)
NM_006939.4(SOS2):c.1160G>A (p.Arg387Gln)
NM_006939.4(SOS2):c.1339C>A (p.Pro447Thr)
NM_006939.4(SOS2):c.1375A>G (p.Ile459Val) rs886268693
NM_006939.4(SOS2):c.2281T>C (p.Trp761Arg)
NM_006939.4(SOS2):c.3540TCC[2] (p.Pro1183del)
NM_006939.4(SOS2):c.87+1G>T
NM_007373.4(SHOC2):c.1138G>A (p.Val380Ile)
NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu) rs113954997
NM_020778.5(ALPK3):c.1492C>T (p.Pro498Ser)
NM_020778.5(ALPK3):c.182+1G>T
NM_020778.5(ALPK3):c.2198G>A (p.Gly733Asp)
NM_020778.5(ALPK3):c.2471delinsTCATT (p.Ser824fs) rs2141567902
NM_020778.5(ALPK3):c.3472G>A (p.Glu1158Lys)
NM_020778.5(ALPK3):c.371C>A (p.Pro124Gln)
NM_020778.5(ALPK3):c.3748G>A (p.Glu1250Lys)
NM_030662.4(MAP2K2):c.181A>G (p.Lys61Glu) rs730880517
NM_152594.3(SPRED1):c.685G>A (p.Val229Ile)
NM_152594.3(SPRED1):c.896A>C (p.Glu299Ala)

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