List of variants in gene INPP5K reported as pathogenic for congenital muscular dystrophy with cataracts and intellectual disability

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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: 9

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HGVS	dbSNP	gnomAD frequency
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.1251_1252del (p.Asn417fs)	rs1060505040
NM_016532.4(INPP5K):c.149T>C (p.Ile50Thr)	rs1060505038
NM_016532.4(INPP5K):c.165G>T (p.Leu55Phe)
NM_016532.4(INPP5K):c.277A>G (p.Met93Val)	rs1060505039
NM_016532.4(INPP5K):c.753_756del (p.Arg251fs)
NM_016532.4(INPP5K):c.899A>G (p.Tyr300Cys)	rs766046008

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