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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_006121.4(KRT1):c.1018G>C (p.Asp340His)	rs2121004044
NM_006121.4(KRT1):c.1310T>C (p.Leu437Pro)	rs267607428
NM_006121.4(KRT1):c.1349C>A (p.Ala450Asp)	rs199877663
NM_006121.4(KRT1):c.1454T>A (p.Leu485His)
NM_006121.4(KRT1):c.1454T>C (p.Leu485Pro)	rs267607430
NM_006121.4(KRT1):c.1780_1787del (p.Gly594fs)	rs1592264179
NM_006121.4(KRT1):c.574G>C (p.Ala192Pro)	rs1555171527
NM_006121.4(KRT1):c.593T>G (p.Val198Gly)	rs2121008110
NM_006121.4(KRT1):c.698C>T (p.Ser233Leu)	rs60297570
NM_006121.4(KRT1):c.793_806+1del	rs2121007459
NM_006121.4(KRT1):c.806+1G>A

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