List of variants in gene combination ABCA12, SNHG31 reported as likely 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: 3

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HGVS	dbSNP	gnomAD frequency
NM_173076.3(ABCA12):c.6458G>T (p.Gly2153Val)	rs2105931529
NM_173076.3(ABCA12):c.7172G>A (p.Ser2391Asn)	rs1085308032
NM_173076.3(ABCA12):c.7172G>T (p.Ser2391Ile)	rs1085308032

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