List of variants in gene combination ABCA12, SNHG31 reported as likely pathogenic by Labcorp Genetics (formerly Invitae), Labcorp

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_173076.3(ABCA12):c.6293C>A (p.Ala2098Asp)	rs1291672671	0.00001
NM_173076.3(ABCA12):c.7247C>T (p.Pro2416Leu)	rs764355087	0.00001
NM_173076.3(ABCA12):c.6394-2A>G	rs990205047
NM_173076.3(ABCA12):c.6852+2T>G	rs2469146316
NM_173076.3(ABCA12):c.6962+1G>T	rs767101129
NM_173076.3(ABCA12):c.6962+2T>C	rs2469139427
NM_173076.3(ABCA12):c.6962+2del	rs2469139434
NM_173076.3(ABCA12):c.6963-2A>G	rs2469138327
NM_173076.3(ABCA12):c.7105-3_7105-2delinsTT	rs2469134106
NM_173076.3(ABCA12):c.7277G>A (p.Arg2426Gln)	rs761068277
NM_173076.3(ABCA12):c.7405T>C (p.Cys2469Arg)	rs2105917488
NM_173076.3(ABCA12):c.7542+1G>A	rs2469102307

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