ClinVar Miner

List of variants in gene KRT1 reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006121.4(KRT1):c.1295G>A (p.Arg432His) rs373780324 0.00005
NM_006121.4(KRT1):c.1397A>G (p.Gln466Arg) rs753630553 0.00005
NM_006121.4(KRT1):c.1004T>A (p.Val335Asp)
NM_006121.4(KRT1):c.485T>C (p.Leu162Pro) rs2498637831
NM_006121.4(KRT1):c.612G>C (p.Gln204His) rs1555171443
NM_006121.4(KRT1):c.723_740del (p.Arg241_Lys246del) rs2121007745
NM_006121.4(KRT1):c.790G>C (p.Glu264Gln) rs2498635809

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