List of variants in gene INPP5E reported as likely pathogenic for Joubert syndrome and related disorders

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_019892.6(INPP5E):c.1753C>T (p.Arg585Cys)	rs763992407	0.00002
NM_019892.6(INPP5E):c.1303C>T (p.Arg435Trp)	rs756789619	0.00001
NM_019892.6(INPP5E):c.1224del (p.Ile409fs)	rs2131608743
NM_019892.6(INPP5E):c.1608dup (p.Asp537Ter)	rs2131605715
NM_019892.6(INPP5E):c.1757_1758del (p.Pro586fs)
NM_019892.6(INPP5E):c.1844_1846delinsGAA (p.Leu615_Leu616delinsTer)

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