ClinVar Miner

List of variants reported as likely pathogenic for Primary familial hypertrophic cardiomyopathy by Blueprint Genetics

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) rs200939753 0.00009
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) rs56851164 0.00009
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) rs199728019 0.00007
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr) rs200303340 0.00005
NM_000256.3(MYBPC3):c.2381C>T (p.Pro794Leu) rs730880565 0.00004
NM_000256.3(MYBPC3):c.3005G>A (p.Arg1002Gln) rs727504235 0.00004
NM_000256.3(MYBPC3):c.2908C>T (p.Arg970Trp) rs730880138 0.00003
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361 0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125 0.00002
NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser) rs397515884 0.00001
NM_000256.3(MYBPC3):c.3253G>T (p.Glu1085Ter) rs397516010 0.00001
NM_000256.3(MYBPC3):c.3331-2A>C rs869025469 0.00001
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp) rs727503171 0.00001
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr) rs727503167 0.00001
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042 0.00001
NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr) rs397516202 0.00001
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316 0.00001
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser) rs869025431 0.00001
NM_000256.3(MYBPC3):c.1091-1G>A rs730880143
NM_000256.3(MYBPC3):c.1153_1168del (p.Val385fs) rs869025465
NM_000256.3(MYBPC3):c.1351+1G>A rs727503204
NM_000256.3(MYBPC3):c.145_150delinsTGATGAG (p.Ile49_Ser50delinsTer) rs869025462
NM_000256.3(MYBPC3):c.1505_1509del (p.Arg502fs) rs587782957
NM_000256.3(MYBPC3):c.1575T>A (p.Tyr525Ter) rs397515910
NM_000256.3(MYBPC3):c.1575T>G (p.Tyr525Ter) rs397515910
NM_000256.3(MYBPC3):c.1625-1G>A rs869025466
NM_000256.3(MYBPC3):c.1641_1642del (p.Tyr548fs) rs398123279
NM_000256.3(MYBPC3):c.1841A>G (p.Tyr614Cys) rs727503194
NM_000256.3(MYBPC3):c.1927+2T>C rs869025467
NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu) rs397515938
NM_000256.3(MYBPC3):c.2097del (p.Asp700fs) rs869025460
NM_000256.3(MYBPC3):c.229G>T (p.Gly77Ter) rs869025459
NM_000256.3(MYBPC3):c.3043dup (p.Ala1015fs) rs869025468
NM_000256.3(MYBPC3):c.3163A>T (p.Lys1055Ter) rs869025461
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.357del (p.Ala120fs) rs869025463
NM_000256.3(MYBPC3):c.3814+2T>C rs869025470
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.441_442del (p.Gly148fs) rs869025464
NM_000257.4(MYH7):c.1178C>T (p.Ala393Val) rs869025477
NM_000257.4(MYH7):c.1331A>C (p.Asn444Thr) rs730880159
NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser) rs730880159
NM_000257.4(MYH7):c.1627G>A (p.Ala543Thr) rs730880160
NM_000257.4(MYH7):c.2348G>C (p.Arg783Pro) rs397516142
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000257.4(MYH7):c.2785G>A (p.Glu929Lys) rs730880161
NM_000257.4(MYH7):c.3622G>A (p.Asp1208Asn) rs730880781
NM_000257.4(MYH7):c.789A>G (p.Ile263Met) rs730880855
NM_000258.3(MYL3):c.383G>A (p.Gly128Asp) rs869025485
NM_000258.3(MYL3):c.447G>A (p.Met149Ile) rs730880162
NM_000363.5(TNNI3):c.526G>A (p.Val176Met) rs727503501
NM_000363.5(TNNI3):c.575G>A (p.Arg192His) rs104894729
NM_000432.4(MYL2):c.239C>A (p.Thr80Asn) rs587782965
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_002880.4(RAF1):c.769T>C (p.Ser257Pro) rs727505017
NM_002880.4(RAF1):c.779C>T (p.Thr260Ile) rs869025501
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_020433.5(JPH2):c.482C>A (p.Thr161Lys) rs587782951

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