ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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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.4139A>G (p.Asn1380Ser) rs28940269 0.00004
NM_173076.3(ABCA12):c.4951G>A (p.Gly1651Ser) rs28940568 0.00002
NM_173076.3(ABCA12):c.4541G>A (p.Arg1514His) rs28940270 0.00001
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.4142G>A (p.Gly1381Glu) rs28940268
NM_173076.3(ABCA12):c.4615G>A (p.Glu1539Lys) rs28940271
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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