List of variants in gene ABCA12 reported as likely pathogenic for autosomal recessive congenital ichthyosis

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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_173076.3(ABCA12):c.4139A>G (p.Asn1380Ser)	rs28940269	0.00004
NM_173076.3(ABCA12):c.130C>T (p.Arg44Trp)	rs201542666
NM_173076.3(ABCA12):c.1657+1G>T	rs758568142
NM_173076.3(ABCA12):c.1918dup (p.Leu640fs)	rs1574984736
NM_173076.3(ABCA12):c.3446T>C (p.Leu1149Pro)	rs1559134341
NM_173076.3(ABCA12):c.4151A>G (p.Lys1384Arg)
NM_173076.3(ABCA12):c.4381del (p.Arg1461fs)
NM_173076.3(ABCA12):c.5001_5010del (p.Ser1668fs)
NM_173076.3(ABCA12):c.5878C>T (p.Arg1960Ter)	rs769753487
NM_173076.3(ABCA12):c.596G>A (p.Trp199Ter)	rs1187032187
NM_173076.3(ABCA12):c.859C>T (p.Arg287Ter)	rs11891778

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