ClinVar Miner

List of variants studied for Short-rib thoracic dysplasia 6 with or without polydactyly by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001199397.3(NEK1):c.1161_1162insC (p.Glu388fs) rs765296153
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg) rs574204412
NM_001199397.3(NEK1):c.894C>G (p.Asn298Lys) rs745526568

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