ClinVar Miner

List of variants in gene KRT1 reported as not provided by Epithelial Biology; Institute of Medical Biology, Singapore

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Gene type:
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Total variants: 60
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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.868-31T>C rs2741158 0.45526
NM_006121.4(KRT1):c.963+52T>G rs2741159 0.37434
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.800G>A (p.Arg267Gln) rs60359468 0.00003
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.1072T>A (p.Tyr358Asn) rs1050872
NM_006121.4(KRT1):c.1254+1G>A rs267607421
NM_006121.4(KRT1):c.1310T>C (p.Leu437Pro) rs267607428
NM_006121.4(KRT1):c.1376_1399del (p.Ala459_Gln466del) rs60447237
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>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.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.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.1628del (p.Gly543fs) rs57650413
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.1762A>G (p.Arg588Gly) rs60526003
NM_006121.4(KRT1):c.221A>T (p.Lys74Ile) rs57977969
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.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.577T>C (p.Ser193Pro) rs60937700
NM_006121.4(KRT1):c.591+1G>A rs267607422
NM_006121.4(KRT1):c.591+1G>C 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.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

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