List of variants in gene IFT74 studied for ciliopathy

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: 22

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HGVS	dbSNP	gnomAD frequency
NM_025103.4(IFT74):c.1790C>T (p.Thr597Ile)	rs3429	0.09433
NM_025103.4(IFT74):c.254A>G (p.Lys85Arg)	rs11555693	0.09345
NM_025103.4(IFT74):c.165A>G (p.Ile55Met)	rs10812505	0.05909
NM_025103.4(IFT74):c.163A>T (p.Ile55Leu)	rs62542664	0.00104
NM_025103.4(IFT74):c.902C>T (p.Pro301Leu)	rs78753648	0.00052
NM_025103.4(IFT74):c.120+2dup	rs551515830	0.00048
NM_025103.4(IFT74):c.1685-1G>T	rs200699377	0.00005
NM_025103.4(IFT74):c.535C>G (p.Gln179Glu)	rs150219690	0.00004
NM_025103.4(IFT74):c.94T>C (p.Ser32Pro)	rs201259858	0.00002
NM_025103.4(IFT74):c.1054G>T (p.Gly352Cys)	rs759662469	0.00001
NM_025103.4(IFT74):c.85C>T (p.Arg29Ter)	rs751583919	0.00001
GRCh38/hg38 9p21.2(chr9:27040565-27060992)
NM_025103.4(IFT74):c.-19-2025_120+884delinsTTA
NM_025103.4(IFT74):c.1343G>A (p.Arg448His)
NM_025103.4(IFT74):c.152G>A (p.Arg51His)	rs73436007
NM_025103.4(IFT74):c.306-24A>G	rs2131540908
NM_025103.4(IFT74):c.358G>T (p.Glu120Ter)
NM_025103.4(IFT74):c.371_372del (p.Gln124fs)	rs2131541114
NM_025103.4(IFT74):c.587C>T (p.Ala196Val)
NM_025103.4(IFT74):c.853G>T (p.Glu285Ter)	rs1056125920
NM_025103.4(IFT74):c.92del (p.Leu31fs)	rs2131480409
NM_025103.4(IFT74):c.975-2_975-1del	rs2131642498

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