List of variants in gene RSPH1 reported as pathogenic by Invitae

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_080860.4(RSPH1):c.275-2A>C	rs151107532	0.00048
NM_080860.4(RSPH1):c.377G>T (p.Gly126Val)	rs1334138475	0.00001
NC_000021.8:g.(?_43892928)_(43916296_?)del
NC_000021.8:g.(?_43912848)_(43916296_?)del
NM_080860.4(RSPH1):c.281G>A (p.Trp94Ter)	rs587777635
NM_080860.4(RSPH1):c.287_305dup (p.His102delinsGlnTer)	rs2054181752
NM_080860.4(RSPH1):c.287dup (p.Asn96fs)	rs1060501861
NM_080860.4(RSPH1):c.366-3C>A	rs587777058
NM_080860.4(RSPH1):c.390C>A (p.Tyr130Ter)
NM_080860.4(RSPH1):c.563T>G (p.Leu188Ter)	rs727503394
NM_080860.4(RSPH1):c.573+1_573+17del	rs1064792947
NM_080860.4(RSPH1):c.634dup (p.Thr212fs)
NM_080860.4(RSPH1):c.655del (p.Leu219fs)	rs767700639
NM_080860.4(RSPH1):c.680dup (p.Pro228fs)	rs556286752
NM_080860.4(RSPH1):c.727_727+138del	rs1555875358
NM_080860.4(RSPH1):c.790_791del (p.Met264fs)

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