List of variants in gene DKC1 reported as pathogenic for X-linked disease

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: 17

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HGVS	dbSNP	gnomAD frequency
NC_000023.11:g.(154776372_154776374)_(154778317_154778319)del
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val)	rs121912288
NM_001363.5(DKC1):c.1069A>G (p.Thr357Ala)	rs137854492
NM_001363.5(DKC1):c.106T>G (p.Phe36Val)	rs121912293
NM_001363.5(DKC1):c.109_111del (p.Leu37del)	rs137854489
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln)	rs1057520719
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr)	rs28936072
NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr)	rs199422252
NM_001363.5(DKC1):c.119C>G (p.Pro40Arg)	rs121912292
NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu)	rs121912295
NM_001363.5(DKC1):c.1259+1G>A	rs1569558616
NM_001363.5(DKC1):c.146C>T (p.Thr49Met)	rs121912304
NM_001363.5(DKC1):c.16+592C>G	rs1603429348
NM_001363.5(DKC1):c.203A>G (p.His68Arg)	rs1557264102
NM_001363.5(DKC1):c.214_215delinsTA (p.Leu72Tyr)	rs121912294
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly)	rs121912305
NM_001363.5(DKC1):c.91C>A (p.Gln31Lys)	rs137854491

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