ClinVar Miner

List of variants studied for congenital reticular ichthyosiform erythroderma by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000421.5(KRT10):c.376G>A (p.Gly126Ser) rs77919366 0.17640
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.466C>T (p.Arg156Cys) rs58852768
NM_000421.5(KRT10):c.49GGA[9] (p.Gly24dup) rs148510452

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