List of variants in gene RSPH3 reported as benign for ciliopathy

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: 24

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HGVS	dbSNP	gnomAD frequency
NM_031924.8(RSPH3):c.212G>A (p.Arg71Gln)	rs34582178	0.12441
NM_031924.8(RSPH3):c.1194A>G (p.Glu398=)	rs3756988	0.12408
NM_031924.8(RSPH3):c.1127G>A (p.Gly376Asp)	rs3756987	0.12406
NM_031924.8(RSPH3):c.176A>G (p.Asn59Ser)	rs16889320	0.10595
NM_031924.8(RSPH3):c.1063C>T (p.Leu355=)	rs12191022	0.10590
NM_031924.8(RSPH3):c.890T>C (p.Met297Thr)	rs768994	0.10330
NM_031924.8(RSPH3):c.211C>T (p.Arg71Trp)	rs41267753	0.05602
NM_031924.8(RSPH3):c.38C>G (p.Pro13Arg)	rs61750776	0.04396
NM_031924.8(RSPH3):c.243G>A (p.Arg81=)	rs34725942	0.04393
NM_031924.8(RSPH3):c.35C>T (p.Ala12Val)	rs61750777	0.02290
NM_031924.8(RSPH3):c.1024G>A (p.Glu342Lys)	rs12204826	0.01824
NM_031924.8(RSPH3):c.767G>A (p.Arg256Gln)	rs10455840	0.01819
NM_031924.8(RSPH3):c.303A>G (p.Thr101=)	rs34756688	0.01596
NM_031924.8(RSPH3):c.-220C>A	rs41267757	0.01586
NM_031924.8(RSPH3):c.242G>A (p.Arg81Gln)	rs41267751	0.00764
NM_031924.8(RSPH3):c.141A>G (p.Gly47=)	rs116017511	0.00682
NM_031924.8(RSPH3):c.1136A>G (p.Gln379Arg)	rs144678437	0.00499
NM_031924.8(RSPH3):c.956G>A (p.Arg319His)	rs147880570	0.00396
NM_031924.8(RSPH3):c.116+14C>T	rs140073925	0.00079
NM_031924.8(RSPH3):c.208G>A (p.Gly70Arg)	rs199716916	0.00026
NM_031924.8(RSPH3):c.205-13C>T	rs200799554	0.00006
NM_031924.8(RSPH3):c.804G>A (p.Pro268=)	rs200370157	0.00001
NM_031924.8(RSPH3):c.992A>C (p.His331Pro)	rs78116655
NM_031924.8(RSPH3):c.9A>G (p.Ser3=)	rs10945587

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