ClinVar Miner

List of variants in gene KRT1 studied for diffuse palmoplantar keratoderma

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
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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.1511-11T>C rs201036490 0.00012
NM_006121.4(KRT1):c.1912A>G (p.Thr638Ala) rs140098565 0.00009
NM_006121.4(KRT1):c.1035C>T (p.Leu345=) rs192365492 0.00007
NM_006121.4(KRT1):c.1475+14G>A rs369324638 0.00006
NM_006121.4(KRT1):c.*372G>A rs886049633 0.00004
NM_006121.4(KRT1):c.1527C>T (p.His509=) rs371428130 0.00004
NM_006121.4(KRT1):c.45G>A (p.Gly15=) rs549917182 0.00004
NM_006121.4(KRT1):c.257G>A (p.Arg86His) rs886049637 0.00003
NM_006121.4(KRT1):c.1107C>T (p.Ala369=) rs183980482 0.00002
NM_006121.4(KRT1):c.*72G>T rs1486027458 0.00001
NM_006121.4(KRT1):c.1482T>C (p.Ser494=) rs181516749 0.00001
NM_006121.4(KRT1):c.1666G>A (p.Gly556Ser) rs371843007 0.00001
NM_006121.4(KRT1):c.477G>C (p.Gln159His) rs886049635 0.00001
NM_006121.4(KRT1):c.729C>T (p.Asp243=) rs201069649 0.00001
NM_006121.4(KRT1):c.*275G>A rs886049634
NM_006121.4(KRT1):c.1002T>C (p.Asn334=) rs1941526192
NM_006121.4(KRT1):c.1318G>A (p.Ala440Thr)
NM_006121.4(KRT1):c.1358A>C (p.Gln453Pro) rs1941504357
NM_006121.4(KRT1):c.1376_1399del (p.Ala459_Gln466del) rs60447237
NM_006121.4(KRT1):c.1453C>T (p.Leu485Phe) rs1555171247
NM_006121.4(KRT1):c.1564G>A (p.Gly522Ser) rs1342761835
NM_006121.4(KRT1):c.221A>T (p.Lys74Ile) rs57977969
NM_006121.4(KRT1):c.302G>T (p.Gly101Val) rs147840212
NM_006121.4(KRT1):c.374G>A (p.Gly125Asp) rs886049636
NM_006121.4(KRT1):c.48_49insAC (p.Phe17fs)
NM_006121.4(KRT1):c.591+2T>A rs267607424

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