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

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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: 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.5939+4A>G	rs1131692156
NM_173076.3(ABCA12):c.6463G>T (p.Gly2155Cys)
NM_173076.3(ABCA12):c.6785_6852+13delinsT
NM_173076.3(ABCA12):c.6963-1G>A
NM_173076.3(ABCA12):c.7240-1G>T
NM_173076.3(ABCA12):c.7277G>A (p.Arg2426Gln)	rs761068277

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