List of variants reported as pathogenic for autosomal recessive congenital ichthyosis 4B by OMIM

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn)	rs726070	0.02339
NM_173076.3(ABCA12):c.6610C>T (p.Arg2204Ter)	rs137853289	0.00001
NM_173076.3(ABCA12):c.(872+1_873-1)_(985+1_986-1)del (p.Ser291Argfs)
NM_173076.3(ABCA12):c.3535G>A (p.Gly1179Arg)	rs267606622
NM_173076.3(ABCA12):c.3656C>T (p.Ala1219Val)	rs80181772
NM_173076.3(ABCA12):c.5012del (p.Asn1671fs)	rs387906285
NM_173076.3(ABCA12):c.7323del (p.Val2442fs)	rs387906284
NM_173076.3(ABCA12):c.859C>T (p.Arg287Ter)	rs11891778

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