ClinVar Miner

List of variants reported as pathogenic for congenital reticular ichthyosiform erythroderma by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000421.5(KRT10):c.1373+1G>A rs587776816
NM_000421.5(KRT10):c.1373+1del rs2143133654
NM_000421.5(KRT10):c.1374-1G>C rs2143131560
NM_000421.5(KRT10):c.1374-2A>G rs587776815
NM_000421.5(KRT10):c.1403_1417delinsA (p.Ser468fs) rs2143130756
NM_000421.5(KRT10):c.1449dup (p.Gly484fs) rs587776817
NM_000421.5(KRT10):c.1560_1561del (p.Gly521fs) rs267607384

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