ClinVar Miner

List of variants in gene ABHD12 reported as pathogenic for PHARC syndrome

Included ClinVar conditions (1):
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Total variants: 10
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HGVS dbSNP
NC_000020.11:g.25383675_25397545del13871
NM_001042472.2(ABHD12):c.211_223del (p.Arg71Tyrfs) rs1555817157
NM_001042472.2(ABHD12):c.337_338delGAinsTTT (p.Asp113Phefs) rs1555813914
NM_001042472.2(ABHD12):c.557G>C (p.Arg186Pro) rs587777604
NM_015600.4(ABHD12):c.-6898_191+7002delinsCC
NM_015600.4(ABHD12):c.1054C>T (p.Arg352Ter) rs267606624
NM_015600.4(ABHD12):c.1116C>G (p.His372Gln) rs587777602
NM_015600.4(ABHD12):c.249C>G (p.Tyr83Ter) rs1303044966
NM_015600.4(ABHD12):c.477G>A (p.Trp159Ter) rs587777603
NM_015600.4(ABHD12):c.846_852dup (p.His285Terfs) rs397704714

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