ClinVar Miner

List of variants studied for congenital reticular ichthyosiform erythroderma

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000421.5(KRT10):c.1459C>T (p.His487Tyr) rs17855579 0.74556
NM_000421.5(KRT10):c.376G>A (p.Gly126Ser) rs77919366 0.17640
NM_000421.5(KRT10):c.1373+1G>A rs587776816
NM_000421.5(KRT10):c.1373+1del rs2143133654
NM_000421.5(KRT10):c.1374-1G>A
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
NM_000421.5(KRT10):c.1654AGCTCCGGCGGCGGATACGGCGGCGGCAGC[3] (p.556GYGGGSSSGG[3]) rs776920005
NM_000421.5(KRT10):c.1654_1683dup (p.Gly556_Gly565dup) rs776920005
NM_000421.5(KRT10):c.1749-10A>G
NM_000421.5(KRT10):c.466C>T (p.Arg156Cys) rs58852768
NM_000421.5(KRT10):c.470T>C (p.Leu157Pro) rs2143150768
NM_000421.5(KRT10):c.49GGA[9] (p.Gly24dup) rs148510452
NM_006121.4(KRT1):c.1865dup (p.Val623fs) rs1555171158

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