ClinVar Miner

List of variants reported as benign for Cardiomyopathy, familial hypertrophic 27

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NC_000015.10:g.84817040A>G rs28431354 0.03031
NM_020778.5(ALPK3):c.3628C>T (p.Arg1210Trp) rs55752937 0.02339
NM_020778.5(ALPK3):c.1199A>G (p.Gln400Arg) rs55702300 0.02213
NM_020778.5(ALPK3):c.2177A>G (p.Gln726Arg) rs78778733 0.01836
NM_020778.5(ALPK3):c.2431G>A (p.Glu811Lys) rs35633849 0.01835
NM_020778.5(ALPK3):c.4064C>A (p.Ala1355Asp) rs34775428 0.01753
NM_020778.5(ALPK3):c.2811C>G (p.Ala937=) rs35621845 0.01276
NM_020778.5(ALPK3):c.104C>T (p.Ala35Val) rs75088852 0.01026
NM_020778.5(ALPK3):c.3362A>G (p.Gln1121Arg) rs114132013 0.00860
NM_020778.5(ALPK3):c.2530C>T (p.Pro844Ser) rs115292211 0.00382
NM_020778.5(ALPK3):c.1336C>A (p.Pro446Thr) rs199986476 0.00202
NM_020778.5(ALPK3):c.1676C>T (p.Thr559Met) rs16974569 0.00181
NM_020778.5(ALPK3):c.2181G>C (p.Glu727Asp) rs56191073 0.00009
NM_020778.5(ALPK3):c.423-19del rs537375112

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