ClinVar Miner

List of variants in gene KRT1 reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_006121.4(KRT1):c.1254+1G>A rs267607421
NM_006121.4(KRT1):c.1434G>C (p.Glu478Asp) rs58949162
NM_006121.4(KRT1):c.1436T>C (p.Ile479Thr) rs57837128
NM_006121.4(KRT1):c.1453C>T (p.Leu485Phe) rs1555171247
NM_006121.4(KRT1):c.482T>C (p.Leu161Pro) rs57695159
NM_006121.4(KRT1):c.559C>T (p.Leu187Phe) rs59151464
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.584T>A (p.Ile195Asn)
NM_006121.4(KRT1):c.591+1G>C rs267607422
NM_006121.4(KRT1):c.591+1G>T rs267607422
NM_006121.4(KRT1):c.698C>T (p.Ser233Leu) rs60297570

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