ClinVar Miner

List of variants in gene KRT1 reported as benign for diffuse palmoplantar keratoderma

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_006121.4(KRT1):c.1389C>T (p.Arg463=) rs936958 0.45526
NM_006121.4(KRT1):c.1898A>G (p.Lys633Arg) rs14024 0.23729
NM_006121.4(KRT1):c.*344C>T rs11170231 0.10595
NM_006121.4(KRT1):c.75C>T (p.Ile25=) rs828367 0.02886
NM_006121.4(KRT1):c.1360G>T (p.Ala454Ser) rs17678945 0.01785
NM_006121.4(KRT1):c.1506T>C (p.Ser502=) rs34154891 0.01096
NM_006121.4(KRT1):c.741T>C (p.Ser247=) rs56895471 0.01086
NM_006121.4(KRT1):c.762G>A (p.Ser254=) rs2741155 0.00713
NM_006121.4(KRT1):c.592-8G>A rs147622831 0.00319
NM_006121.4(KRT1):c.1074C>T (p.Tyr358=) rs150503977 0.00201
NM_006121.4(KRT1):c.113G>A (p.Arg38His) rs34787940 0.00148
NM_006121.4(KRT1):c.1669A>G (p.Ser557Gly) rs77846840 0.00126
NM_006121.4(KRT1):c.982A>T (p.Thr328Ser) rs139428176 0.00126
NM_006121.4(KRT1):c.*91T>C rs560913567 0.00107
NM_006121.4(KRT1):c.1677C>T (p.Tyr559=) rs11170232 0.00086
NM_006121.4(KRT1):c.-21C>T rs189087382 0.00062
NM_006121.4(KRT1):c.1294C>T (p.Arg432Cys) rs142781300 0.00041
NM_006121.4(KRT1):c.*95G>A rs144520865 0.00039
NM_006121.4(KRT1):c.1031G>A (p.Ser344Asn) rs769218372 0.00018
NM_006121.4(KRT1):c.1035C>T (p.Leu345=) rs192365492 0.00007

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