ClinVar Miner

List of variants reported as pathogenic by Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_001267550.2(TTN):c.86821+2T>A rs397517735 0.00005
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907 0.00003
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042 0.00001
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091 0.00001
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) rs121918070 0.00001
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004 0.00001
NM_002880.4(RAF1):c.1922C>T (p.Thr641Met) rs587777587 0.00001
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243 0.00001
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser) rs120074184
NM_000256.3(MYBPC3):c.3129C>A (p.Tyr1043Ter) rs573821685
NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs) rs727503172
NM_000256.3(MYBPC3):c.833del (p.Gly278fs) rs727503212
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000335.5(SCN5A):c.1936del (p.Gln646fs) rs727505158
NM_000363.5(TNNI3):c.575G>A (p.Arg192His) rs104894729
NM_001005242.3(PKP2):c.2377del (p.Ser793fs) rs727504432
NM_001005242.3(PKP2):c.256dup (p.Tyr86fs) rs794729120
NM_001267550.2(TTN):c.51436C>T (p.Gln17146Ter) rs906494713
NM_001267550.2(TTN):c.58838del (p.Tyr19613fs) rs1576141328
NM_001267550.2(TTN):c.64038T>G (p.Tyr21346Ter) rs1161735211
NM_001267550.2(TTN):c.73568del (p.Pro24523fs) rs1559415567
NM_001267550.2(TTN):c.91034G>A (p.Trp30345Ter) rs1575512482
NM_016203.4(PRKAG2):c.1589A>G (p.His530Arg) rs267606977
NM_170707.4(LMNA):c.711_729delinsCC (p.Glu238fs) rs1572359848

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