ClinVar Miner

List of variants in gene combination ABHD12, LOC130065586 reported as uncertain significance for peripheral neuropathy

Included ClinVar conditions (524):
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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001042472.3(ABHD12):c.-44C>G rs373200654 0.06100
NM_001042472.2(ABHD12):c.-221G>A rs879795178 0.00084
NM_001042472.3(ABHD12):c.-118T>C rs886056565 0.00014
NM_001042472.3(ABHD12):c.-82_-76del rs886056564 0.00009
NM_001042472.3(ABHD12):c.94G>T (p.Ala32Ser) rs768563605 0.00006
NM_001042472.3(ABHD12):c.137C>G (p.Ala46Gly) rs1007058021 0.00001
NM_001042472.2(ABHD12):c.-260G>A rs886056566
NM_001042472.3(ABHD12):c.26C>T (p.Ala9Val) rs776381886

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