ClinVar Miner

List of variants in gene KRT2 reported as uncertain significance for autosomal recessive congenital ichthyosis

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000423.3(KRT2):c.*248C>T rs539170994 0.00034
NM_000423.3(KRT2):c.*322G>C rs1285903268 0.00010
NM_000423.3(KRT2):c.*302T>C rs745675085 0.00009
NM_000423.3(KRT2):c.52G>A (p.Gly18Arg) rs779454673 0.00006
NM_000423.3(KRT2):c.*263C>T rs1189980977 0.00003
NM_000423.3(KRT2):c.1051G>A (p.Glu351Lys) rs751634621 0.00003
NM_000423.3(KRT2):c.864C>T (p.Asp288=) rs765620105 0.00003
NM_000423.3(KRT2):c.*301G>A rs886049628 0.00001
NM_000423.3(KRT2):c.1869G>T (p.Lys623Asn) rs766846917 0.00001
NM_000423.3(KRT2):c.633G>A (p.Glu211=) rs755185776 0.00001
NM_000423.3(KRT2):c.768C>T (p.Asn256=) rs886049631 0.00001
NM_000423.3(KRT2):c.*125T>G rs1941137697
NM_000423.3(KRT2):c.*289C>A rs886049629
NM_000423.3(KRT2):c.*324C>T rs1941135094
NM_000423.3(KRT2):c.*346A>T rs1178289586
NM_000423.3(KRT2):c.*438A>G rs1941133709
NM_000423.3(KRT2):c.1355C>G (p.Ala452Gly) rs747898157
NM_000423.3(KRT2):c.1829G>T (p.Gly610Val) rs886049630
NM_000423.3(KRT2):c.290G>A (p.Gly97Glu) rs1941256831
NM_000423.3(KRT2):c.301delinsGGCTTTGGAGGCGGCAGCG (p.Ser101delinsGlyPheGlyGlyGlySerGly) rs886049632
NM_000423.3(KRT2):c.346G>C (p.Gly116Arg) rs1941253363
NM_000423.3(KRT2):c.800+9C>G rs1242347501

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