ClinVar Miner

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

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Total variants: 31
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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_033118.4(MYLK2):c.173C>A (p.Ala58Asp) rs138130914 0.00070
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237 0.00066
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299 0.00035
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.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_000256.3(MYBPC3):c.842G>A (p.Arg281Gln) rs11570060 0.00004
NM_001267550.2(TTN):c.56686G>A (p.Val18896Met) rs370629962 0.00004
NM_001267550.2(TTN):c.62995T>G (p.Phe20999Val) rs568886353 0.00002
NM_000256.3(MYBPC3):c.3058A>G (p.Ser1020Gly) rs2095879641 0.00001
NM_001267550.2(TTN):c.104347C>T (p.Leu34783Phe) rs539735520 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_032578.4(MYPN):c.3167C>T (p.Ser1056Phe) rs373101027 0.00001
NM_001267550.2(TTN):c.25616G>T (p.Cys8539Phe) rs550882549
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.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_003476.5(CSRP3):c.76A>G (p.Asn26Asp) rs1408098337
NM_133379.5(TTN):c.11684T>C (p.Ile3895Thr) rs2085229392
NM_144573.4(NEXN):c.826G>A (p.Glu276Lys) rs1649891198

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