List of variants in gene combination ABCA12, SNHG31 reported as pathogenic for autosomal recessive congenital ichthyosis 4B

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 7

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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.7444C>T (p.Arg2482Ter)	rs199503269	0.00001
NM_173076.3(ABCA12):c.6234-1G>C	rs1553520468
NM_173076.3(ABCA12):c.6858del (p.Phe2286fs)
NM_173076.3(ABCA12):c.7323del (p.Val2442fs)	rs387906284
NM_173076.3(ABCA12):c.7344-1G>C	rs2105917562

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