ClinVar Miner

List of variants in gene NEK1 studied for Short-rib thoracic dysplasia 1 with or without polydactyly

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Total variants: 2
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HGVS dbSNP
NM_001199397.2(NEK1):c.3410T>C (p.Leu1137Pro) rs1554020960
NM_012224.3(NEK1):c.2890+1G>T rs1561165983

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