List of variants in gene ABHD12, LOC126863008 studied for PHARC syndrome

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

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001042472.3(ABHD12):c.718G>A (p.Val240Met)	rs572997548	0.00002
NM_001042472.3(ABHD12):c.653G>A (p.Arg218Gln)	rs1182010524	0.00001
NM_001042472.3(ABHD12):c.620-2A>G	rs1555811525
NM_001042472.3(ABHD12):c.620G>T (p.Gly207Val)	rs2145936237
NM_001042472.3(ABHD12):c.690G>A (p.Trp230Ter)

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