List of variants in gene IFT52 studied for Short-rib thoracic dysplasia 16 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: 9

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HGVS	dbSNP	gnomAD frequency
NM_016004.5(IFT52):c.159G>A (p.Val53=)	rs2664519	0.74971
NM_016004.5(IFT52):c.157G>A (p.Val53Met)	rs137979762	0.00043
NM_016004.5(IFT52):c.1189C>T (p.Pro397Ser)	rs764053825	0.00004
NM_016004.5(IFT52):c.293A>G (p.Asn98Ser)	rs530999984	0.00001
NM_016004.5(IFT52):c.424C>T (p.Arg142Ter)	rs748090019	0.00001
NM_016004.5(IFT52):c.595G>A (p.Ala199Thr)	rs886037869	0.00001
NM_016004.5(IFT52):c.556A>G (p.Thr186Ala)	rs1983651325
NM_016004.5(IFT52):c.695_699delinsCA (p.Ile232_Met233delinsThr)	rs1984074001
NM_016004.5(IFT52):c.878del (p.Leu293fs)	rs886037870

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