List of variants in gene INPP5K studied for congenital muscular dystrophy with cataracts and intellectual disability

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_016532.4(INPP5K):c.-60G>T	rs3815465	0.17124
NM_016532.4(INPP5K):c.119A>G (p.Asn40Ser)	rs547379014	0.00005
NM_016532.4(INPP5K):c.418G>A (p.Gly140Ser)	rs749383757	0.00001
NM_016532.4(INPP5K):c.67G>A (p.Val23Met)	rs750781027	0.00001
NM_016532.4(INPP5K):c.805G>A (p.Asp269Asn)	rs761612652	0.00001
NM_016532.4(INPP5K):c.1247G>C (p.Ser416Thr)	rs777736302
NM_016532.4(INPP5K):c.1251_1252del (p.Asn417fs)	rs1060505040
NM_016532.4(INPP5K):c.149T>C (p.Ile50Thr)	rs1060505038
NM_016532.4(INPP5K):c.152+5G>T
NM_016532.4(INPP5K):c.165G>T (p.Leu55Phe)
NM_016532.4(INPP5K):c.277A>G (p.Met93Val)	rs1060505039
NM_016532.4(INPP5K):c.302T>C (p.Phe101Ser)	rs2075263105
NM_016532.4(INPP5K):c.32G>A (p.Gly11Asp)
NM_016532.4(INPP5K):c.419G>A (p.Gly140Asp)	rs2150989792
NM_016532.4(INPP5K):c.554+16del	rs5818804
NM_016532.4(INPP5K):c.653G>A (p.Trp218Ter)
NM_016532.4(INPP5K):c.753_756del (p.Arg251fs)
NM_016532.4(INPP5K):c.793C>T (p.Pro265Ser)	rs2150978746
NM_016532.4(INPP5K):c.809G>A (p.Arg270His)
NM_016532.4(INPP5K):c.899A>G (p.Tyr300Cys)	rs766046008
NM_016532.4(INPP5K):c.925A>G (p.Ser309Gly)

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