List of variants in gene ABCA12 reported as uncertain significance 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)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_173076.3(ABCA12):c.2033A>G (p.Asn678Ser)	rs147218173	0.00138
NM_173076.3(ABCA12):c.5393C>T (p.Pro1798Leu)	rs181314573	0.00007
NM_173076.3(ABCA12):c.5548T>C (p.Ser1850Pro)	rs151083083	0.00007
NM_173076.3(ABCA12):c.4951G>A (p.Gly1651Ser)	rs28940568	0.00002
NM_173076.3(ABCA12):c.2637C>T (p.Ser879=)	rs760070967	0.00001
NM_173076.3(ABCA12):c.167A>G (p.Tyr56Cys)
NM_173076.3(ABCA12):c.2592+2dup
NM_173076.3(ABCA12):c.2683G>A (p.Asp895Asn)	rs1559141294
NM_173076.3(ABCA12):c.3306G>A (p.Met1102Ile)
NM_173076.3(ABCA12):c.3416T>C (p.Leu1139Pro)	rs2105976738
NM_173076.3(ABCA12):c.3634T>A (p.Ser1212Thr)
NM_173076.3(ABCA12):c.4540C>T (p.Arg1514Cys)	rs1266760446
NM_173076.3(ABCA12):c.4676G>T (p.Gly1559Val)	rs1457513156
NM_173076.3(ABCA12):c.4977+6C>T
NM_173076.3(ABCA12):c.5562G>A (p.Gln1854=)	rs1459045233
NM_173076.3(ABCA12):c.94T>C (p.Trp32Arg)

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