ClinVar Miner

List of variants studied for Cardiomyopathy, familial hypertrophic 27 by Fulgent Genetics, Fulgent Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_020778.5(ALPK3):c.1015C>T (p.Arg339Cys) rs141449225 0.00067
NM_020778.5(ALPK3):c.3950G>A (p.Gly1317Asp) rs148887150 0.00007
NM_020778.5(ALPK3):c.3682C>G (p.Arg1228Gly) rs537104966
NM_020778.5(ALPK3):c.412C>T (p.Gln138Ter) rs200889953

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