List of variants studied for DKC1-related disorder by OMIM

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		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001363.4(DKC1):c.-142C>G	rs199422241	0.00229
NC_000023.11:g.(154776372_154776374)_(154778317_154778319)del
NM_001082486.2(ACD):c.250_252del (p.Lys84del)	rs797045144
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.113T>C (p.Ile38Thr)	rs28936072
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.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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