List of variants in gene ABHD12 reported as pathogenic for autosomal recessive disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001042472.3(ABHD12):c.477G>A (p.Trp159Ter)	rs587777603	0.00001
NM_001042472.3(ABHD12):c.867+2C>T	rs1437849678	0.00001
NM_001042472.3(ABHD12):c.1015C>T (p.Gln339Ter)	rs868586681
NM_001042472.3(ABHD12):c.1054C>T (p.Arg352Ter)	rs267606624
NM_001042472.3(ABHD12):c.1116C>G (p.His372Gln)	rs587777602
NM_001042472.3(ABHD12):c.211_223del (p.Arg71fs)	rs1555817157
NM_001042472.3(ABHD12):c.249C>G (p.Tyr83Ter)	rs1303044966
NM_001042472.3(ABHD12):c.337_338delinsTTT (p.Asp113fs)	rs1555813914
NM_001042472.3(ABHD12):c.557G>C (p.Arg186Pro)	rs587777604
NM_001042472.3(ABHD12):c.601dup (p.Val201fs)
NM_001042472.3(ABHD12):c.846_852dup (p.His285Ter)	rs397704714

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