List of variants in gene RSPH4A reported as benign for ciliopathy

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

Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_001010892.3(RSPH4A):c.1766T>C (p.Leu589Pro)	rs784133	0.69639
NM_001010892.3(RSPH4A):c.1667G>A (p.Arg556His)	rs6927567	0.18378
NM_001010892.3(RSPH4A):c.*465T>C	rs6925922	0.18366
NM_001010892.3(RSPH4A):c.1879A>C (p.Asn627His)	rs9488991	0.11561
NM_001010892.3(RSPH4A):c.*436A>C	rs9488993	0.08172
NM_001010892.3(RSPH4A):c.446C>G (p.Thr149Ser)	rs13213314	0.08023
NM_001010892.3(RSPH4A):c.2099C>T (p.Ala700Val)	rs9488992	0.02977
NM_001010892.3(RSPH4A):c.731G>A (p.Arg244His)	rs41289942	0.01592
NM_001010892.3(RSPH4A):c.1489G>A (p.Val497Ile)	rs117169123	0.01149
NM_001010892.3(RSPH4A):c.1798+11G>A	rs41290844	0.00873
NM_001010892.3(RSPH4A):c.1731A>G (p.Lys577=)	rs73765819	0.00679
NM_001010892.3(RSPH4A):c.675G>T (p.Ser225=)	rs79327004	0.00290
NM_001010892.3(RSPH4A):c.1917-4A>G	rs201826366	0.00223
NM_001010892.3(RSPH4A):c.1080G>C (p.Leu360Phe)	rs111375012	0.00144
NM_001010892.3(RSPH4A):c.1662+15C>T	rs183372450	0.00141
NM_001010892.3(RSPH4A):c.1974A>G (p.Thr658=)	rs142977481	0.00126
NM_001010892.3(RSPH4A):c.307G>T (p.Asp103Tyr)	rs139745647	0.00066
NM_001010892.3(RSPH4A):c.930C>T (p.Asn310=)	rs180881714	0.00021
NM_001010892.3(RSPH4A):c.287C>T (p.Pro96Leu)	rs201187909	0.00015
NM_001010892.3(RSPH4A):c.1536G>A (p.Glu512=)	rs533664718	0.00001

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