List of variants in gene ABHD12 reported as benign 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001042472.3(ABHD12):c.951-79A>G	rs2260197	0.64898
NM_001042472.3(ABHD12):c.1068T>C (p.Asp356=)	rs10966	0.45223
NM_001042472.3(ABHD12):c.*148C>T	rs1046073	0.44458
NM_001042472.3(ABHD12):c.*297C>G	rs11100	0.44435
NM_001042472.3(ABHD12):c.837C>T (p.Arg279=)	rs6107027	0.42961
NM_001042472.3(ABHD12):c.*83G>A	rs2424708	0.37241
NM_001042472.3(ABHD12):c.423-68C>T	rs2274890	0.21695
NM_001042472.3(ABHD12):c.1045G>A (p.Ala349Thr)	rs746748	0.04054
NM_001042472.3(ABHD12):c.202G>A (p.Val68Met)	rs11904930	0.00770
NM_001042472.3(ABHD12):c.*541G>A	rs41304802	0.00734
NM_001042472.3(ABHD12):c.1176G>A (p.Ser392=)	rs184232860	0.00029
NM_001042472.3(ABHD12):c.*321G>T	rs534140287
NM_001042472.3(ABHD12):c.1029+247_1029+248insC	rs3215644

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