List of variants in gene ABHD12, LOC130065586 studied for PHARC syndrome

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001042472.2(ABHD12):c.-220G>A	rs3827014	0.54397
NM_001042472.3(ABHD12):c.-44C>G	rs373200654	0.06100
NM_001042472.3(ABHD12):c.-94C>T	rs536190889	0.02252
NM_001042472.2(ABHD12):c.-221G>A	rs879795178	0.00080
NM_001042472.3(ABHD12):c.-118T>C	rs886056565	0.00022
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_001042472.3(ABHD12):c.26C>T (p.Ala9Val)	rs776381886	0.00001
NM_001042472.2(ABHD12):c.-260G>A	rs886056566
NM_001042472.3(ABHD12):c.-40_-39insGGCGGAGGC	rs3833297

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