ClinVar Miner

List of variants in gene combination LOC114827851, MYH6 reported as uncertain significance for hypertrophic cardiomyopathy 14

Included ClinVar conditions (6):
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Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys) rs140596256 0.00030
NM_002471.4(MYH6):c.67C>T (p.Arg23Cys) rs587782959 0.00016
NM_002471.4(MYH6):c.346-2A>G rs141187241 0.00014
NM_002471.4(MYH6):c.115G>A (p.Val39Met) rs142850511 0.00012
NM_002471.4(MYH6):c.7G>A (p.Asp3Asn) rs371667049 0.00011
NM_002471.4(MYH6):c.161G>A (p.Arg54Gln) rs727503239 0.00010
NM_002471.4(MYH6):c.203C>T (p.Thr68Met) rs751285148 0.00009
NM_002471.4(MYH6):c.421G>A (p.Ala141Thr) rs776853139 0.00009
NM_002471.4(MYH6):c.642+4C>T rs369858520 0.00007
NM_002471.4(MYH6):c.100C>T (p.Arg34Cys) rs765792077 0.00006
NM_002471.4(MYH6):c.226G>A (p.Val76Met) rs977234074 0.00006
NM_002471.4(MYH6):c.190G>A (p.Glu64Lys) rs750818212 0.00005
NM_002471.4(MYH6):c.611G>A (p.Arg204His) rs200623022 0.00005
NM_002471.4(MYH6):c.268A>G (p.Met90Val) rs778199745 0.00004
NM_002471.4(MYH6):c.610C>T (p.Arg204Cys) rs756369181 0.00004
NM_002471.4(MYH6):c.233A>G (p.Gln78Arg) rs772216708 0.00003
NM_002471.4(MYH6):c.329C>T (p.Ala110Val) rs149454728 0.00003
NM_002471.4(MYH6):c.502+5G>A rs764301017 0.00003
NM_002471.4(MYH6):c.530+6C>T rs374289431 0.00003
NM_002471.4(MYH6):c.635C>T (p.Ala212Val) rs780456381 0.00003
NM_002471.4(MYH6):c.121G>A (p.Asp41Asn) rs201161721 0.00002
NM_002471.4(MYH6):c.160C>T (p.Arg54Trp) rs369366244 0.00002
NM_002471.4(MYH6):c.212T>C (p.Val71Ala) rs769686237 0.00002
NM_002471.4(MYH6):c.244C>T (p.Pro82Ser) rs754260713 0.00002
NM_002471.4(MYH6):c.354G>A (p.Ser118=) rs373427673 0.00002
NM_002471.4(MYH6):c.409G>A (p.Glu137Lys) rs752658033 0.00002
NM_002471.4(MYH6):c.481G>A (p.Ala161Thr) rs754736798 0.00002
NM_002471.4(MYH6):c.485A>G (p.Tyr162Cys) rs397516772 0.00002
NM_002471.4(MYH6):c.101G>A (p.Arg34His) rs762303505 0.00001
NM_002471.4(MYH6):c.182C>T (p.Ala61Val) rs730880148 0.00001
NM_002471.4(MYH6):c.259A>T (p.Ile87Phe) rs1021271475 0.00001
NM_002471.4(MYH6):c.269T>C (p.Met90Thr) rs919307122 0.00001
NM_002471.4(MYH6):c.328G>A (p.Ala110Thr) rs397516760 0.00001
NM_002471.4(MYH6):c.345T>C (p.Tyr115=) rs770221652 0.00001
NM_002471.4(MYH6):c.353C>T (p.Ser118Leu) rs1322526035 0.00001
NM_002471.4(MYH6):c.35C>T (p.Ala12Val) rs562487638 0.00001
NM_002471.4(MYH6):c.493A>T (p.Met165Leu) rs972242173 0.00001
NM_002471.4(MYH6):c.49C>T (p.Arg17Cys) rs1131691313 0.00001
NM_002471.4(MYH6):c.530C>T (p.Thr177Met) rs1223199964 0.00001
NM_002471.4(MYH6):c.68G>A (p.Arg23His) rs771786844 0.00001
NM_002471.4(MYH6):c.71T>C (p.Leu24Pro) rs1320990570 0.00001
NM_002471.4(MYH6):c.77C>G (p.Ala26Gly) rs559973480 0.00001
NM_002471.4(MYH6):c.-46-40G>A
NM_002471.4(MYH6):c.15G>C (p.Gln5His)
NM_002471.4(MYH6):c.173A>G (p.Lys58Arg) rs1427899950
NM_002471.4(MYH6):c.174G>C (p.Lys58Asn)
NM_002471.4(MYH6):c.175G>C (p.Val59Leu) rs377029781
NM_002471.4(MYH6):c.17T>C (p.Met6Thr) rs1270444359
NM_002471.4(MYH6):c.184G>A (p.Glu62Lys) rs1891810495
NM_002471.4(MYH6):c.201G>C (p.Lys67Asn) rs757559746
NM_002471.4(MYH6):c.202-3C>T
NM_002471.4(MYH6):c.212_213del (p.Val71fs) rs1060501429
NM_002471.4(MYH6):c.222C>G (p.Asp74Glu)
NM_002471.4(MYH6):c.239A>G (p.Asn80Ser) rs2138620546
NM_002471.4(MYH6):c.265G>A (p.Asp89Asn) rs1289213430
NM_002471.4(MYH6):c.304C>A (p.Leu102Ile)
NM_002471.4(MYH6):c.308T>G (p.Phe103Cys)
NM_002471.4(MYH6):c.310A>C (p.Asn104His) rs2138620434
NM_002471.4(MYH6):c.319del (p.Glu107fs)
NM_002471.4(MYH6):c.325T>C (p.Tyr109His) rs926609805
NM_002471.4(MYH6):c.33del (p.Ala12fs) rs1891817183
NM_002471.4(MYH6):c.343T>C (p.Tyr115His)
NM_002471.4(MYH6):c.346-3C>T rs1017238152
NM_002471.4(MYH6):c.358C>G (p.Leu120Val)
NM_002471.4(MYH6):c.358C>T (p.Leu120Phe)
NM_002471.4(MYH6):c.373G>C (p.Val125Leu)
NM_002471.4(MYH6):c.379C>G (p.Pro127Ala) rs1555335108
NM_002471.4(MYH6):c.38C>T (p.Ala13Val) rs1555335309
NM_002471.4(MYH6):c.395C>T (p.Pro132Leu) rs2046697143
NM_002471.4(MYH6):c.427C>T (p.Arg143Trp) rs2277473
NM_002471.4(MYH6):c.431G>A (p.Gly144Asp) rs199923533
NM_002471.4(MYH6):c.437A>G (p.Lys146Arg) rs1555335081
NM_002471.4(MYH6):c.440G>A (p.Arg147Lys)
NM_002471.4(MYH6):c.449C>A (p.Ala150Asp) rs879175179
NM_002471.4(MYH6):c.449C>G (p.Ala150Gly) rs879175179
NM_002471.4(MYH6):c.451C>T (p.Pro151Ser) rs1595064466
NM_002471.4(MYH6):c.475G>A (p.Asp159Asn)
NM_002471.4(MYH6):c.502+1G>C
NM_002471.4(MYH6):c.502G>C (p.Asp168His)
NM_002471.4(MYH6):c.50G>A (p.Arg17His)
NM_002471.4(MYH6):c.50G>T (p.Arg17Leu) rs746646172
NM_002471.4(MYH6):c.530+3G>A
NM_002471.4(MYH6):c.531G>A (p.Thr177=)
NM_002471.4(MYH6):c.569G>A (p.Arg190His) rs1891729151
NM_002471.4(MYH6):c.616AAG[1] (p.Lys207del) rs1404018896
NM_002471.4(MYH6):c.642+1G>T rs199989693
NM_002471.4(MYH6):c.642+3G>A rs374013248
NM_002471.4(MYH6):c.64G>A (p.Glu22Lys) rs2138622800
NM_002471.4(MYH6):c.68_83del (p.Arg23fs) rs1486297751
NM_002471.4(MYH6):c.86G>T (p.Arg29Leu) rs150574114

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