List of variants in gene combination LOC129993365, NEK1 reported as uncertain significance for Short-rib thoracic dysplasia 6 with or without polydactyly

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001199397.3(NEK1):c.2687C>T (p.Ser896Phe)	rs1048939661	0.00003
NM_001199397.3(NEK1):c.2693T>C (p.Val898Ala)	rs747700130	0.00001
NM_001199397.3(NEK1):c.2699C>A (p.Thr900Lys)	rs1195089162	0.00001

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