List of variants in gene INPP5E reported as likely 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: 17

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HGVS	dbSNP	gnomAD frequency
NM_019892.6(INPP5E):c.844G>A (p.Gly282Arg)	rs138068434	0.00018
NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys)	rs375909217	0.00002
NM_019892.6(INPP5E):c.1615G>A (p.Gly539Arg)	rs375126841	0.00002
NM_019892.6(INPP5E):c.1052G>A (p.Arg351His)	rs775094328	0.00001
NM_019892.6(INPP5E):c.1543C>T (p.Arg515Trp)	rs13297509	0.00001
NM_019892.6(INPP5E):c.1670G>A (p.Arg557His)	rs992814593	0.00001
NM_019892.6(INPP5E):c.1790C>T (p.Pro597Leu)	rs760790290	0.00001
NM_019892.6(INPP5E):c.1073C>T (p.Pro358Leu)	rs1835755632
NM_019892.6(INPP5E):c.1156T>C (p.Ser386Pro)
NM_019892.6(INPP5E):c.1280-2A>C
NM_019892.6(INPP5E):c.1312G>A (p.Asp438Asn)	rs1835733198
NM_019892.6(INPP5E):c.1368C>A (p.Asn456Lys)
NM_019892.6(INPP5E):c.1564G>C (p.Gly522Arg)	rs2131605763
NM_019892.6(INPP5E):c.1740G>C (p.Lys580Asn)
NM_019892.6(INPP5E):c.1747G>T (p.Asp583Tyr)	rs756888841
NM_019892.6(INPP5E):c.1862G>T (p.Arg621Leu)	rs1588830568
NM_019892.6(INPP5E):c.874C>T (p.Arg292Cys)

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