List of variants in gene INPP5E studied for MORM syndrome

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_019892.6(INPP5E):c.1248T>C (p.Thr416=)	rs10781542	0.42574
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=)	rs10870194	0.42571
NM_019892.6(INPP5E):c.972A>G (p.Pro324=)	rs10870199	0.10324
NM_019892.6(INPP5E):c.636C>A (p.Val212=)	rs34071122	0.01252
NM_019892.6(INPP5E):c.1861C>T (p.Arg621Trp)	rs142759730	0.00006
NM_019892.6(INPP5E):c.1534C>T (p.Arg512Trp)	rs374152018	0.00003
NM_019892.6(INPP5E):c.1505C>T (p.Pro502Leu)	rs769531967
NM_019892.6(INPP5E):c.1521C>T (p.His507=)	rs10870188
NM_019892.6(INPP5E):c.1791G>A (p.Pro597=)	rs10870182
NM_019892.6(INPP5E):c.1879C>T (p.Gln627Ter)	rs121918127
NM_019892.6(INPP5E):c.812+7_812+10del	rs5901103
NM_019892.6(INPP5E):c.813-9C>T	rs771055995

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