ClinVar Miner

List of variants studied for Cardiomyopathy, familial hypertrophic 27 by 3billion, Medical Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_020778.5(ALPK3):c.3340C>T (p.Arg1114Ter) rs751041696 0.00001
NM_020778.5(ALPK3):c.4234C>T (p.Arg1412Ter) rs1431206462 0.00001
NM_020778.5(ALPK3):c.3409_3436del (p.Pro1137fs)
NM_020778.5(ALPK3):c.3580dup (p.Arg1194fs) rs777315336
NM_020778.5(ALPK3):c.3635_3636del (p.Arg1212fs) rs2141569401
NM_020778.5(ALPK3):c.3691G>T (p.Glu1231Ter)
NM_020778.5(ALPK3):c.4199del (p.Asp1400fs) rs1567095321
NM_020778.5(ALPK3):c.691C>T (p.Gln231Ter)

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