List of variants in gene WDR35 reported as benign for Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly

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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: 34

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HGVS	dbSNP	gnomAD frequency
NM_020779.4(WDR35):c.2824-14G>T	rs1191779	0.96807
NM_020779.4(WDR35):c.2496A>G (p.Glu832=)	rs6741091	0.45165
NM_020779.4(WDR35):c.2915A>G (p.Glu972Gly)	rs1191778	0.31383
NM_020779.4(WDR35):c.3121+12A>C	rs28502265	0.10214
NM_020779.4(WDR35):c.2599G>A (p.Ala867Thr)	rs2293669	0.05563
NM_020779.4(WDR35):c.549C>T (p.Tyr183=)	rs34169020	0.03645
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln)	rs113345685	0.01206
NM_020779.4(WDR35):c.3019C>T (p.Arg1007Cys)	rs56395266	0.01130
NM_020779.4(WDR35):c.1089G>A (p.Thr363=)	rs79829477	0.00817
NM_020779.4(WDR35):c.2414+20C>T	rs116756504	0.00361
NM_020779.4(WDR35):c.2262C>T (p.Asp754=)	rs147206032	0.00285
NM_020779.4(WDR35):c.318T>C (p.Ile106=)	rs115963122	0.00263
NM_020779.4(WDR35):c.2964+12C>T	rs113663112	0.00252
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val)	rs148242353	0.00233
NM_020779.4(WDR35):c.1524+11C>A	rs200213874	0.00201
NM_020779.4(WDR35):c.3279G>C (p.Gln1093His)	rs148436608	0.00161
NM_020779.4(WDR35):c.1755C>T (p.Val585=)	rs146130105	0.00124
NM_020779.4(WDR35):c.1471-7A>G	rs376388391	0.00098
NM_020779.4(WDR35):c.437-13T>C	rs367802842	0.00098
NM_020779.4(WDR35):c.142+10T>C	rs186647997	0.00096
NM_020779.4(WDR35):c.507A>G (p.Lys169=)	rs200495720	0.00094
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val)	rs144493712	0.00089
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe)	rs200059077	0.00073
NM_020779.4(WDR35):c.1401-15T>G	rs201903683	0.00068
NM_020779.4(WDR35):c.765C>T (p.Tyr255=)	rs117255034	0.00013
NM_001006657.2(WDR35):c.1215A>G (p.Thr405=)	rs144673252	0.00011
NM_020779.4(WDR35):c.2835A>G (p.Glu945=)	rs182928585	0.00010
NM_020779.4(WDR35):c.867C>T (p.Tyr289=)	rs185888517	0.00008
NM_020779.4(WDR35):c.1053T>C (p.Pro351=)	rs74385826	0.00004
NM_020779.4(WDR35):c.1845+16G>A	rs376710057	0.00001
NM_020779.4(WDR35):c.1058G>C (p.Arg353Pro)	rs76623454
NM_020779.4(WDR35):c.1846-11dup	rs754138477
NM_020779.4(WDR35):c.24+17dup
NM_020779.4(WDR35):c.2622A>T (p.Pro874=)

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