List of variants in gene INPP5E studied for perceptual disorders

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp)	rs78211353	0.00057
NM_019892.6(INPP5E):c.1457G>A (p.Arg486His)	rs367592401	0.00010
NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe)	rs550485638	0.00005
NM_019892.6(INPP5E):c.754T>C (p.Ser252Pro)	rs775406790	0.00004
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln)	rs121918129	0.00003
NM_019892.6(INPP5E):c.1133G>A (p.Arg378His)	rs758951947	0.00002
NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys)	rs375909217	0.00002
NM_019892.6(INPP5E):c.1787G>C (p.Arg596Thr)	rs765327224	0.00001
NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln)	rs1588830568	0.00001
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG	rs71269007
NM_019892.6(INPP5E):c.1337T>C (p.Leu446Pro)	rs1238625120
NM_019892.6(INPP5E):c.1442G>A (p.Arg481His)
NM_019892.6(INPP5E):c.1505C>T (p.Pro502Leu)	rs769531967
NM_019892.6(INPP5E):c.1508C>T (p.Ala503Val)	rs370661476
NM_019892.6(INPP5E):c.1522G>C (p.Asp508His)
NM_019892.6(INPP5E):c.1672G>T (p.Val558Phe)	rs1417022247
NM_019892.6(INPP5E):c.1759G>A (p.Val587Met)	rs1835669632
NM_019892.6(INPP5E):c.28C>G (p.Pro10Ala)
NM_019892.6(INPP5E):c.473del (p.Gly158fs)	rs779450345
NM_019892.6(INPP5E):c.812+7_812+10del	rs5901103
NM_019892.6(INPP5E):c.964del (p.Leu322fs)

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