List of variants in gene IFT140 reported as uncertain significance by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_014714.4(IFT140):c.1667A>G (p.His556Arg)	rs137925718	0.00073
NM_014714.4(IFT140):c.2756G>A (p.Arg919Gln)	rs201851204	0.00050
NM_014714.4(IFT140):c.2360A>G (p.Asp787Gly)	rs144938800	0.00048
NM_014714.4(IFT140):c.4208G>A (p.Arg1403Gln)	rs113216558	0.00043
NM_014714.4(IFT140):c.2551G>A (p.Val851Met)	rs754753583	0.00012
NM_014714.4(IFT140):c.3874-10A>C	rs761503137	0.00011
NM_014714.4(IFT140):c.2504C>T (p.Ala835Val)	rs368232950	0.00009
NM_014714.4(IFT140):c.2542C>T (p.Arg848Cys)	rs201384469	0.00009
NM_014714.4(IFT140):c.3210G>A (p.Ala1070=)	rs372233286	0.00004
NM_014714.4(IFT140):c.3675G>T (p.Leu1225=)	rs759998867	0.00004
NM_014714.4(IFT140):c.3830G>A (p.Arg1277Gln)	rs756683299	0.00004
NM_014714.4(IFT140):c.4036C>T (p.Arg1346Cys)	rs556735183	0.00004
NM_014714.4(IFT140):c.1727G>A (p.Arg576Gln)	rs373111085	0.00003
NM_014714.4(IFT140):c.1559C>T (p.Thr520Ile)	rs1321089981	0.00001
NM_014714.4(IFT140):c.2509C>G (p.Arg837Gly)	rs754073086
NM_014714.4(IFT140):c.2617G>A (p.Asp873Asn)	rs560840162

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