List of variants in gene RSPH4A reported as pathogenic 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: 37

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HGVS	dbSNP	gnomAD frequency
NM_001010892.3(RSPH4A):c.1351C>T (p.Gln451Ter)	rs750528020	0.00005
NM_001010892.3(RSPH4A):c.1103T>G (p.Val368Gly)	rs747419302	0.00003
NM_001010892.3(RSPH4A):c.1490dup (p.Ser498fs)	rs762267064	0.00003
NM_001010892.3(RSPH4A):c.1393C>T (p.Arg465Ter)	rs755782051	0.00002
NM_001010892.3(RSPH4A):c.1453C>T (p.Arg485Ter)	rs1034327724	0.00002
NM_001010892.3(RSPH4A):c.1468C>T (p.Arg490Ter)	rs118204043	0.00002
NM_001010892.3(RSPH4A):c.460C>T (p.Gln154Ter)	rs118204041	0.00002
NM_001010892.3(RSPH4A):c.1082G>T (p.Gly361Val)	rs757303224	0.00001
NM_001010892.3(RSPH4A):c.1391G>A (p.Gly464Glu)	rs753041231	0.00001
NM_001010892.3(RSPH4A):c.1558C>T (p.Arg520Ter)	rs767646489	0.00001
NM_001010892.3(RSPH4A):c.325C>T (p.Gln109Ter)	rs118204042	0.00001
NM_001010892.3(RSPH4A):c.430C>T (p.Gln144Ter)	rs756868889	0.00001
NM_001010892.3(RSPH4A):c.1011_1012del (p.Phe338fs)	rs1775719317
NM_001010892.3(RSPH4A):c.1068G>A (p.Trp356Ter)	rs371374918
NM_001010892.3(RSPH4A):c.11C>G (p.Ser4Ter)	rs1554247978
NM_001010892.3(RSPH4A):c.1261G>T (p.Glu421Ter)
NM_001010892.3(RSPH4A):c.1270del (p.Thr424fs)	rs397518456
NM_001010892.3(RSPH4A):c.1407del (p.Ile470fs)	rs2115362230
NM_001010892.3(RSPH4A):c.1631G>A (p.Trp544Ter)	rs2115362674
NM_001010892.3(RSPH4A):c.1662+2_1662+5del	rs768986129
NM_001010892.3(RSPH4A):c.1690C>T (p.Gln564Ter)	rs1554249521
NM_001010892.3(RSPH4A):c.1690del (p.Gln564fs)	rs1775758975
NM_001010892.3(RSPH4A):c.1707del (p.Glu570fs)	rs902750903
NM_001010892.3(RSPH4A):c.1732_1733del (p.Asp578fs)	rs750219987
NM_001010892.3(RSPH4A):c.1774_1775del (p.Leu592fs)	rs780292620
NM_001010892.3(RSPH4A):c.1821G>A (p.Trp607Ter)
NM_001010892.3(RSPH4A):c.1852C>T (p.Gln618Ter)
NM_001010892.3(RSPH4A):c.1873C>T (p.Gln625Ter)
NM_001010892.3(RSPH4A):c.1932_1935del (p.Phe644fs)
NM_001010892.3(RSPH4A):c.203dup (p.Thr69fs)	rs2115351044
NM_001010892.3(RSPH4A):c.462_469del (p.Gln155fs)
NM_001010892.3(RSPH4A):c.479del (p.Leu160fs)	rs2115351492
NM_001010892.3(RSPH4A):c.517C>T (p.Gln173Ter)
NM_001010892.3(RSPH4A):c.522dup (p.Glu175fs)	rs1444391928
NM_001010892.3(RSPH4A):c.667del (p.Ser223fs)	rs397518455
NM_001010892.3(RSPH4A):c.690T>G (p.Tyr230Ter)	rs1554248617
NM_001010892.3(RSPH4A):c.921+3_921+6del	rs869320683

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