List of variants in gene combination ABCA12, SNHG31 reported as pathogenic for not provided

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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: 15

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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.7276C>T (p.Arg2426Trp)	rs771593783	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.5939+1G>A	rs758166174
NM_173076.3(ABCA12):c.5963del (p.Ile1987_Leu1988insTer)	rs2469169172
NM_173076.3(ABCA12):c.6037C>T (p.Gln2013Ter)	rs2469168673
NM_173076.3(ABCA12):c.6052C>T (p.Gln2018Ter)
NM_173076.3(ABCA12):c.6167dup (p.Lys2057fs)	rs1698959620
NM_173076.3(ABCA12):c.6287del (p.Gly2096fs)	rs2469159422
NM_173076.3(ABCA12):c.6353C>G (p.Ser2118Ter)	rs1553520447
NM_173076.3(ABCA12):c.6644_6645del (p.Leu2215fs)	rs2469155156
NM_173076.3(ABCA12):c.6858del (p.Phe2286fs)	rs751949857
NM_173076.3(ABCA12):c.7323del (p.Val2442fs)	rs387906284
NM_173076.3(ABCA12):c.7781_7782del (p.Glu2594fs)	rs1064793695

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