ClinVar Miner

List of variants in gene DKC1 studied for cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1

Included ClinVar conditions (2):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001363.5(DKC1):c.1350G>C (p.Glu450Asp) rs1557265675 0.00002
NM_001363.5(DKC1):c.1353T>A (p.Ser451Arg) rs370788135 0.00001
NM_001363.5(DKC1):c.1515A>C (p.Lys505Asn) rs1370393255 0.00001
NM_001363.5(DKC1):c.1240C>G (p.Gln414Glu)
NM_001363.5(DKC1):c.1396A>G (p.Ile466Val)
NM_001363.5(DKC1):c.253G>A (p.Asp85Asn) rs2148509772
NM_001363.5(DKC1):c.352A>C (p.Thr118Pro)
NM_001363.5(DKC1):c.616G>A (p.Glu206Lys)
NM_001363.5(DKC1):c.901A>G (p.Met301Val)

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