List of variants in gene IFT172 studied for Short-rib thoracic dysplasia 10 with or without polydactyly

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_015662.3(IFT172):c.2116-31T>C	rs780107	0.47348
NM_015662.3(IFT172):c.1829+12G>A	rs1647276	0.47329
NM_015662.3(IFT172):c.1445T>G (p.Val482Gly)	rs61740250	0.00006
NM_015662.3(IFT172):c.112C>T (p.Arg38Ter)	rs139021548	0.00004
NM_015662.3(IFT172):c.2365C>T (p.Arg789Ter)	rs202024173	0.00001
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys)	rs587777079	0.00001
NM_015662.3(IFT172):c.1232T>A (p.Ile411Asn)	rs587777085
NM_015662.3(IFT172):c.1524+2_1524+3del	rs769575051
NM_015662.3(IFT172):c.2308A>C (p.Ile770Leu)
NM_015662.3(IFT172):c.2877+48T>G	rs780106
NM_015662.3(IFT172):c.517G>C (p.Asp173His)

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