ClinVar Miner

List of variants in gene KRT1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 142
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HGVS dbSNP gnomAD frequency
NM_006121.4(KRT1):c.964-74T>C rs626480 0.99641
NM_006121.4(KRT1):c.1389C>T (p.Arg463=) rs936958 0.45526
NM_006121.4(KRT1):c.868-31T>C rs2741158 0.45526
NM_006121.4(KRT1):c.963+52T>G rs2741159 0.37434
NM_006121.4(KRT1):c.1898A>G (p.Lys633Arg) rs14024 0.23729
NM_006121.4(KRT1):c.1413= (p.Thr471=) rs698170 0.17860
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.1475+16T>C rs139277600 0.00468
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.193C>T (p.Arg65Trp) rs116444444 0.00102
NM_006121.4(KRT1):c.1294C>T (p.Arg432Cys) rs142781300 0.00041
NM_006121.4(KRT1):c.651G>C (p.Gln217His) rs201584652 0.00039
NM_006121.4(KRT1):c.1128+7G>A rs375387746 0.00035
NM_006121.4(KRT1):c.1236C>T (p.Ile412=) rs137978741 0.00020
NM_006121.4(KRT1):c.1031G>A (p.Ser344Asn) rs769218372 0.00018
NM_006121.4(KRT1):c.63T>A (p.Ser21=) rs142164771 0.00016
NM_006121.4(KRT1):c.1035C>T (p.Leu345=) rs192365492 0.00007
NM_006121.4(KRT1):c.935T>C (p.Ile312Thr) rs758313016 0.00006
NM_006121.4(KRT1):c.800G>A (p.Arg267Gln) rs60359468 0.00003
NM_006121.4(KRT1):c.867+7A>G rs372123842 0.00003
NM_006121.4(KRT1):c.1107C>T (p.Ala369=) rs183980482 0.00002
NM_006121.4(KRT1):c.1642G>A (p.Gly548Ser) rs775570636 0.00002
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.1012T>C (p.Ser338Pro) rs2121004096
NM_006121.4(KRT1):c.1018G>C (p.Asp340His) rs2121004044
NM_006121.4(KRT1):c.1019A>G (p.Asp340Gly) rs58062863
NM_006121.4(KRT1):c.1019A>T (p.Asp340Val) rs58062863
NM_006121.4(KRT1):c.106A>G (p.Thr36Ala)
NM_006121.4(KRT1):c.1072T>A (p.Tyr358Asn) rs1050872
NM_006121.4(KRT1):c.10C>G (p.Gln4Glu)
NM_006121.4(KRT1):c.1114T>C (p.Leu372=)
NM_006121.4(KRT1):c.1129-15A>G
NM_006121.4(KRT1):c.1228T>C (p.Ser410Pro)
NM_006121.4(KRT1):c.1254+1G>A rs267607421
NM_006121.4(KRT1):c.1295G>A (p.Arg432His)
NM_006121.4(KRT1):c.1307C>A (p.Ala436Asp)
NM_006121.4(KRT1):c.1309_1320dup (p.Leu437_Ala440dup) rs2121001206
NM_006121.4(KRT1):c.1310T>C (p.Leu437Pro) rs267607428
NM_006121.4(KRT1):c.132G>C (p.Gly44=)
NM_006121.4(KRT1):c.1349C>A (p.Ala450Asp) rs199877663
NM_006121.4(KRT1):c.1376_1399del (p.Ala459_Gln466del) rs60447237
NM_006121.4(KRT1):c.1378C>T (p.Arg460Cys)
NM_006121.4(KRT1):c.1397A>G (p.Gln466Arg)
NM_006121.4(KRT1):c.1413A>C (p.Thr471=) rs698170
NM_006121.4(KRT1):c.1432G>A (p.Glu478Lys) rs59089201
NM_006121.4(KRT1):c.1432G>C (p.Glu478Gln) rs59089201
NM_006121.4(KRT1):c.1434G>C (p.Glu478Asp) rs58949162
NM_006121.4(KRT1):c.1434G>T (p.Glu478Asp) rs58949162
NM_006121.4(KRT1):c.1435A>T (p.Ile479Phe) rs61218439
NM_006121.4(KRT1):c.1436T>C (p.Ile479Thr) rs57837128
NM_006121.4(KRT1):c.1441A>C (p.Thr481Pro) rs59431558
NM_006121.4(KRT1):c.1445A>G (p.Tyr482Cys) rs58420087
NM_006121.4(KRT1):c.1453C>T (p.Leu485Phe) rs1555171247
NM_006121.4(KRT1):c.1454T>A (p.Leu485His)
NM_006121.4(KRT1):c.1454T>C (p.Leu485Pro) rs267607430
NM_006121.4(KRT1):c.1457T>C (p.Leu486Pro) rs56914602
NM_006121.4(KRT1):c.1457T>G (p.Leu486Arg) rs56914602
NM_006121.4(KRT1):c.1465G>A (p.Glu489Lys) rs58773503
NM_006121.4(KRT1):c.1468G>A (p.Glu490Lys) rs60279707
NM_006121.4(KRT1):c.1468G>C (p.Glu490Gln) rs60279707
NM_006121.4(KRT1):c.1469A>G (p.Glu490Gly) rs58453920
NM_006121.4(KRT1):c.1475+6G>A
NM_006121.4(KRT1):c.1556del (p.Gly519fs) rs58373389
NM_006121.4(KRT1):c.1574_1600del (p.Tyr525_Gly533del) rs58193503
NM_006121.4(KRT1):c.1609_1610delinsA (p.Gly537fs) rs59169454
NM_006121.4(KRT1):c.1611_1691del (p.Gly548_Gly574del)
NM_006121.4(KRT1):c.1628del (p.Gly543fs) rs57650413
NM_006121.4(KRT1):c.1638C>T (p.Gly546=)
NM_006121.4(KRT1):c.1666G>C (p.Gly556Arg) rs371843007
NM_006121.4(KRT1):c.1666_1687delinsA (p.Gly556_Gly563delinsSer)
NM_006121.4(KRT1):c.1669_1689del (p.Ser557_Gly563del) rs267607656
NM_006121.4(KRT1):c.1751dup (p.Ser584fs) rs267607425
NM_006121.4(KRT1):c.1753G>T (p.Gly585Trp)
NM_006121.4(KRT1):c.1762A>G (p.Arg588Gly) rs60526003
NM_006121.4(KRT1):c.1780_1787del (p.Gly594fs) rs1592264179
NM_006121.4(KRT1):c.1789G>A (p.Gly597Ser)
NM_006121.4(KRT1):c.1792_1845del (p.Ser598_Gly615del)
NM_006121.4(KRT1):c.1816G>A (p.Gly606Ser)
NM_006121.4(KRT1):c.1847G>A (p.Arg616Gln)
NM_006121.4(KRT1):c.1851A>T (p.Gly617=) rs1233560776
NM_006121.4(KRT1):c.1864_1865del (p.Gly622fs)
NM_006121.4(KRT1):c.194G>A (p.Arg65Gln)
NM_006121.4(KRT1):c.20C>T (p.Ser7Phe)
NM_006121.4(KRT1):c.221A>T (p.Lys74Ile) rs57977969
NM_006121.4(KRT1):c.256C>A (p.Arg86Ser) rs145256530
NM_006121.4(KRT1):c.284G>T (p.Gly95Val) rs754553875
NM_006121.4(KRT1):c.288TGGTGGCTTTGGTGG[2] (p.99FGGGG[2]) rs527241748
NM_006121.4(KRT1):c.302G>C (p.Gly101Ala)
NM_006121.4(KRT1):c.314G>T (p.Gly105Val)
NM_006121.4(KRT1):c.393A>T (p.Gly131=)
NM_006121.4(KRT1):c.464T>A (p.Val155Asp) rs57959072
NM_006121.4(KRT1):c.464T>G (p.Val155Gly) rs57959072
NM_006121.4(KRT1):c.481C>T (p.Leu161Phe)
NM_006121.4(KRT1):c.482T>C (p.Leu161Pro) rs57695159
NM_006121.4(KRT1):c.507_518del (p.Asp170_Ile173del) rs267607423
NM_006121.4(KRT1):c.508_519del (p.Asp170_Ile173del) rs267607426
NM_006121.4(KRT1):c.531G>T (p.Lys177Asn) rs58381018
NM_006121.4(KRT1):c.536G>C (p.Arg179Pro) rs59044845
NM_006121.4(KRT1):c.556T>C (p.Ser186Pro) rs60022878
NM_006121.4(KRT1):c.559C>T (p.Leu187Phe) rs59151464
NM_006121.4(KRT1):c.563A>C (p.Asn188Thr) rs58928370
NM_006121.4(KRT1):c.563A>G (p.Asn188Ser) rs58928370
NM_006121.4(KRT1):c.564C>A (p.Asn188Lys) rs59429455
NM_006121.4(KRT1):c.571T>A (p.Phe191Ile) rs59022806
NM_006121.4(KRT1):c.572T>G (p.Phe191Cys) rs58008716
NM_006121.4(KRT1):c.573T>G (p.Phe191Leu) rs59208902
NM_006121.4(KRT1):c.574G>C (p.Ala192Pro) rs1555171527
NM_006121.4(KRT1):c.577T>C (p.Ser193Pro) rs60937700
NM_006121.4(KRT1):c.584T>A (p.Ile195Asn)
NM_006121.4(KRT1):c.591+1G>A rs267607422
NM_006121.4(KRT1):c.591+1G>C rs267607422
NM_006121.4(KRT1):c.591+1G>T rs267607422
NM_006121.4(KRT1):c.591+2T>A rs267607424
NM_006121.4(KRT1):c.591+3_591+6del rs267607427
NM_006121.4(KRT1):c.592-142A>G rs2121008385
NM_006121.4(KRT1):c.592-147A>G rs2121008389
NM_006121.4(KRT1):c.593T>G (p.Val198Gly) rs2121008110
NM_006121.4(KRT1):c.604G>A (p.Glu202Lys)
NM_006121.4(KRT1):c.612G>C (p.Gln204His) rs1555171443
NM_006121.4(KRT1):c.623T>C (p.Leu208Pro) rs61616632
NM_006121.4(KRT1):c.641T>C (p.Leu214Pro) rs61549035
NM_006121.4(KRT1):c.693T>G (p.Phe231Leu) rs267607429
NM_006121.4(KRT1):c.698C>T (p.Ser233Leu) rs60297570
NM_006121.4(KRT1):c.720G>A (p.Arg240=) rs1050871
NM_006121.4(KRT1):c.723_740del (p.Arg241_Lys246del) rs2121007745
NM_006121.4(KRT1):c.751C>T (p.Arg251Trp)
NM_006121.4(KRT1):c.761C>T (p.Ser254Leu)
NM_006121.4(KRT1):c.78C>T (p.Asn26=)
NM_006121.4(KRT1):c.790G>C (p.Glu264Gln)
NM_006121.4(KRT1):c.793_806+1del rs2121007459
NM_006121.4(KRT1):c.806+1G>A
NM_006121.4(KRT1):c.840A>G (p.Ala280=)
NM_006121.4(KRT1):c.963+12A>T

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