List of variants reported as likely pathogenic for Autosomal recessive congenital ichthyosis 4B

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_173076.3(ABCA12):c.7247C>T (p.Pro2416Leu)	rs764355087	0.00001
NM_173076.3(ABCA12):c.7276C>T (p.Arg2426Trp)	rs771593783	0.00001
NM_173076.3(ABCA12):c.1918dup (p.Leu640fs)	rs1574984736
NM_173076.3(ABCA12):c.3446T>C (p.Leu1149Pro)	rs1559134341
NM_173076.3(ABCA12):c.4381del (p.Arg1461fs)
NM_173076.3(ABCA12):c.5878C>T (p.Arg1960Ter)	rs769753487
NM_173076.3(ABCA12):c.5939+4A>G	rs1131692156
NM_173076.3(ABCA12):c.7277G>A (p.Arg2426Gln)	rs761068277

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