ClinVar Miner

List of variants reported for Hypertrophic cardiomyopathy by Genetics and Genomics Program, Sidra Medicine

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Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498 0.00372
NM_133379.5(TTN):c.16160G>A (p.Cys5387Tyr) rs72648913 0.00258
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile) rs11900987 0.00205
NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro) rs72646880 0.00151
NM_001038705.3(GPR149):c.1404A>C (p.Arg468Ser) rs148319718 0.00105
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp) rs138130914 0.00070
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237 0.00066
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_001407.3(CELSR3):c.9098G>A (p.Arg3033His) rs201004738 0.00043
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299 0.00035
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp) rs147219158 0.00034
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met) rs72648990 0.00032
NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu) rs201662134 0.00026
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys) rs145039979 0.00021
NM_001267550.2(TTN):c.38975A>T (p.Lys12992Ile) rs746094582 0.00019
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His) rs141258018 0.00019
NM_001267550.2(TTN):c.54148C>T (p.Arg18050Cys) rs55734111 0.00017
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783 0.00016
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp) rs72648235 0.00014
NM_002471.4(MYH6):c.1132G>A (p.Gly378Ser) rs148962966 0.00014
NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr) rs727504355 0.00009
NM_022064.5(RNF123):c.3491C>T (p.Pro1164Leu) rs61743872 0.00009
NM_001267550.2(TTN):c.49000G>A (p.Val16334Met) rs541384076 0.00008
NM_001267550.2(TTN):c.63578G>A (p.Arg21193His) rs372267046 0.00007
NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly) rs369437262 0.00006
NM_001267550.2(TTN):c.4049G>A (p.Arg1350His) rs539470256 0.00006
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000256.3(MYBPC3):c.842G>A (p.Arg281Gln) rs11570060 0.00004
NM_001267550.2(TTN):c.28299C>G (p.Asp9433Glu) rs372608982 0.00004
NM_001267550.2(TTN):c.56686G>A (p.Val18896Met) rs370629962 0.00004
NM_139125.4(MASP1):c.1927G>A (p.Val643Ile) rs765808321 0.00004
NM_001035.3(RYR2):c.5774T>C (p.Ile1925Thr) rs761505396 0.00003
NM_001267550.2(TTN):c.5698G>A (p.Val1900Met) rs750823043 0.00003
NM_032588.4(TRIM63):c.390C>G (p.Ile130Met) rs377334933 0.00003
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000256.3(MYBPC3):c.2504G>T (p.Arg835Leu) rs527305885 0.00002
NM_001267550.2(TTN):c.3509C>T (p.Ser1170Phe) rs759110931 0.00002
NM_001267550.2(TTN):c.62995T>G (p.Phe20999Val) rs568886353 0.00002
NM_003365.3(UQCRC1):c.826C>T (p.Arg276Cys) rs201911056 0.00002
NM_032588.4(TRIM63):c.220C>T (p.Arg74Cys) rs750066412 0.00002
NM_000256.3(MYBPC3):c.3058A>G (p.Ser1020Gly) rs2095879641 0.00001
NM_000256.3(MYBPC3):c.495G>C (p.Glu165Asp) rs730880619 0.00001
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys) rs121913651 0.00001
NM_001035.3(RYR2):c.3890C>T (p.Thr1297Ile) rs746350036 0.00001
NM_001035.3(RYR2):c.4850G>C (p.Trp1617Ser) rs1677785308 0.00001
NM_001035.3(RYR2):c.5680C>A (p.Leu1894Ile) rs555692728 0.00001
NM_001267550.2(TTN):c.104347C>T (p.Leu34783Phe) rs539735520 0.00001
NM_001267550.2(TTN):c.19900T>C (p.Tyr6634His) rs1211263186 0.00001
NM_001267550.2(TTN):c.20395C>T (p.Arg6799Trp) rs751534449 0.00001
NM_001267550.2(TTN):c.21674T>C (p.Phe7225Ser) rs780534846 0.00001
NM_001267550.2(TTN):c.43565A>G (p.His14522Arg) rs374085402 0.00001
NM_001267550.2(TTN):c.59875C>T (p.Arg19959Cys) rs564432498 0.00001
NM_001267550.2(TTN):c.81809T>C (p.Ile27270Thr) rs368527797 0.00001
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys) rs367785431 0.00001
NM_002471.4(MYH6):c.5645G>A (p.Arg1882His) rs199755234 0.00001
NM_020433.5(JPH2):c.1141C>T (p.Arg381Cys) rs768172413 0.00001
NM_032578.4(MYPN):c.3167C>T (p.Ser1056Phe) rs373101027 0.00001
NM_000256.3(MYBPC3):c.2526C>G (p.Tyr842Ter) rs373792537
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) rs397515992
NM_000256.3(MYBPC3):c.3009_3010del (p.Gln1004fs) rs2095879705
NM_000256.3(MYBPC3):c.51dup (p.Ser18fs) rs1595850762
NM_000256.3(MYBPC3):c.654G>A (p.Lys218=) rs2095898361
NM_000257.4(MYH7):c.2051T>C (p.Met684Thr) rs606231332
NM_000257.4(MYH7):c.4985G>A (p.Arg1662His) rs370328209
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000432.4(MYL2):c.119G>A (p.Arg40Lys) rs727503299
NM_001267550.2(TTN):c.104971A>G (p.Thr34991Ala) rs764200285
NM_001267550.2(TTN):c.15040A>G (p.Thr5014Ala) rs143093473
NM_001267550.2(TTN):c.170_172del (p.Ser57del) rs2094107459
NM_001267550.2(TTN):c.21166G>A (p.Val7056Met) rs1306079131
NM_001267550.2(TTN):c.21988G>C (p.Glu7330Gln) rs2078661310
NM_001267550.2(TTN):c.25616G>T (p.Cys8539Phe) rs550882549
NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3]) rs587780487
NM_001267550.2(TTN):c.39020A>C (p.Lys13007Thr) rs532069408
NM_001267550.2(TTN):c.40133C>T (p.Pro13378Leu) rs2062187429
NM_001267550.2(TTN):c.4498G>T (p.Asp1500Tyr) rs2092362997
NM_001267550.2(TTN):c.49814T>G (p.Val16605Gly) rs781195013
NM_001267550.2(TTN):c.56974C>T (p.Pro18992Ser) rs878938953
NM_001267550.2(TTN):c.62044A>G (p.Lys20682Glu) rs2049804283
NM_001267550.2(TTN):c.65144G>A (p.Arg21715Gln) rs368450785
NM_001267550.2(TTN):c.66580G>A (p.Glu22194Lys) rs768049902
NM_001267550.2(TTN):c.66847G>A (p.Val22283Ile) rs554828165
NM_001267550.2(TTN):c.72856G>T (p.Gly24286Ter) rs1198682781
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del) rs543318580
NM_001267550.2(TTN):c.7501C>G (p.Arg2501Gly) rs781459488
NM_001267550.2(TTN):c.75296C>A (p.Ala25099Glu) rs1707934758
NM_001267550.2(TTN):c.78068T>C (p.Ile26023Thr) rs572384303
NM_001267550.2(TTN):c.81036G>T (p.Lys27012Asn) rs550999055
NM_001267550.2(TTN):c.8674G>C (p.Glu2892Gln) rs763393324
NM_001267550.2(TTN):c.90468G>T (p.Lys30156Asn) rs777057812
NM_001267550.2(TTN):c.91363G>A (p.Val30455Met) rs766444853
NM_001267550.2(TTN):c.98758C>T (p.Arg32920Trp) rs755031142
NM_001276345.2(TNNT2):c.281G>C (p.Arg94Thr) rs397516452
NM_001276345.2(TNNT2):c.847A>C (p.Lys283Gln) rs1553279294
NM_003476.5(CSRP3):c.76A>G (p.Asn26Asp) rs1408098337
NM_014000.3(VCL):c.1575A>C (p.Glu525Asp) rs548487697
NM_032578.4(MYPN):c.935C>T (p.Ser312Phe) rs786205457
NM_133379.5(TTN):c.11684T>C (p.Ile3895Thr) rs2085229392
NM_144573.4(NEXN):c.826G>A (p.Glu276Lys) rs1649891198

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