List of variants in gene VPS53 reported as uncertain significance by GeneDx

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001128159.3(VPS53):c.997C>T (p.Arg333Cys)	rs145041715	0.00016
NM_001128159.3(VPS53):c.950C>T (p.Ala317Val)	rs376544966	0.00006
NM_001128159.3(VPS53):c.664G>A (p.Ala222Thr)	rs144345391	0.00005
NM_001128159.3(VPS53):c.281G>A (p.Arg94Gln)	rs780440888	0.00003
NM_001128159.3(VPS53):c.584C>T (p.Pro195Leu)	rs548219603	0.00001
NM_001128159.3(VPS53):c.267G>C (p.Val89=)	rs1443158408
NM_001128159.3(VPS53):c.372+5G>A
NM_001128159.3(VPS53):c.740T>C (p.Ile247Thr)	rs1057518257
NM_001128159.3(VPS53):c.814T>C (p.Phe272Leu)	rs989869542
NM_001128159.3(VPS53):c.907G>A (p.Gly303Ser)

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