List of variants in gene VPS53 reported as benign for Pontocerebellar hypoplasia type 2E

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_001128159.3(VPS53):c.2328+15A>G	rs2034088	0.63097
NM_001128159.3(VPS53):c.1218+817A>G	rs11247553	0.48461
NM_001128159.3(VPS53):c.-90C>T	rs2474694	0.44823
NM_001128159.3(VPS53):c.1867-81C>T	rs7219151	0.40515
NM_001128159.3(VPS53):c.218+102C>G	rs2543781	0.38294
NM_001128159.3(VPS53):c.1524C>T (p.Tyr508=)	rs2075443	0.33961
NM_001128159.3(VPS53):c.219-11T>C	rs4968100	0.19527
NM_001128159.3(VPS53):c.81C>T (p.Ile27=)	rs11558129	0.16882
NM_001128159.3(VPS53):c.1867-71T>C	rs12951098	0.15268
NM_001128159.3(VPS53):c.2062A>G (p.Ile688Val)	rs140376049	0.00139
NM_001128159.3(VPS53):c.1314-19dup	rs36070043

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