List of variants in gene combination ABCA12, SNHG31 reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_173076.3(ABCA12):c.6610C>T (p.Arg2204Ter)	rs137853289	0.00001
NM_173076.3(ABCA12):c.7444C>T (p.Arg2482Ter)	rs199503269	0.00001
NM_173076.3(ABCA12):c.5897dup (p.Tyr1966Ter)
NM_173076.3(ABCA12):c.6353C>G (p.Ser2118Ter)	rs1553520447
NM_173076.3(ABCA12):c.7323del (p.Val2442fs)	rs387906284
NM_173076.3(ABCA12):c.7781_7782del (p.Glu2594fs)	rs1064793695

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