List of variants in gene RSPH1 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: 19

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HGVS	dbSNP	gnomAD frequency
NM_080860.4(RSPH1):c.727+46G>A	rs11702140	0.59955
NM_080860.4(RSPH1):c.393G>A (p.Ala131=)	rs2839536	0.32419
NM_080860.4(RSPH1):c.742G>A (p.Gly248Arg)	rs117385282	0.13197
NM_080860.4(RSPH1):c.579A>G (p.Arg193=)	rs149478284	0.02988
NM_080860.4(RSPH1):c.650T>G (p.Leu217Trp)	rs138007679	0.00716
NM_080860.4(RSPH1):c.450C>T (p.Ala150=)	rs117797631	0.00628
NM_080860.4(RSPH1):c.365+13T>C	rs181902996	0.00482
NM_080860.4(RSPH1):c.733G>A (p.Gly245Arg)	rs151158140	0.00463
NM_080860.4(RSPH1):c.730G>A (p.Ala244Thr)	rs150400022	0.00262
NM_080860.4(RSPH1):c.501+7C>T	rs201034280	0.00184
NM_080860.4(RSPH1):c.711C>T (p.Asp237=)	rs75626002	0.00126
NM_080860.4(RSPH1):c.727+19del	rs144909525	0.00118
NM_080860.4(RSPH1):c.501+14A>G	rs368082841	0.00115
NM_080860.4(RSPH1):c.877+7T>A	rs116369489	0.00080
NM_080860.4(RSPH1):c.546A>G (p.Gln182=)	rs139625725	0.00036
NM_080860.4(RSPH1):c.573+9C>T	rs376931534	0.00014
NM_080860.4(RSPH1):c.654C>T (p.Ala218=)
NM_080860.4(RSPH1):c.727+11C>T	rs201392587
NM_080860.4(RSPH1):c.727+15C>G	rs202146973

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