List of variants reported as uncertain significance for Pontocerebellar hypoplasia type 1A by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_003384.3(VRK1):c.175T>G (p.Ser59Ala)	rs61736727	0.00098
NM_003384.3(VRK1):c.845T>C (p.Ile282Thr)	rs371024271	0.00011
NM_003384.3(VRK1):c.560A>G (p.Tyr187Cys)	rs769507445	0.00004
NM_003384.3(VRK1):c.683C>T (p.Thr228Met)	rs146113610	0.00004
NM_003384.3(VRK1):c.26C>T (p.Ala9Val)	rs771269721	0.00002
NM_003384.3(VRK1):c.1099G>C (p.Glu367Gln)	rs145241983	0.00001
NM_003384.3(VRK1):c.1159C>T (p.Arg387Cys)	rs149083861	0.00001
NM_003384.3(VRK1):c.1166G>A (p.Arg389Lys)	rs766501031	0.00001
NM_003384.3(VRK1):c.134A>G (p.Gln45Arg)	rs1372198425	0.00001
NM_003384.3(VRK1):c.151A>G (p.Ile51Val)	rs1237038231	0.00001
NM_003384.3(VRK1):c.176C>T (p.Ser59Leu)	rs1474265077	0.00001
NM_003384.3(VRK1):c.362A>G (p.Lys121Arg)	rs1064796973	0.00001
NM_003384.3(VRK1):c.466C>A (p.Gln156Lys)	rs201936978	0.00001
NM_003384.3(VRK1):c.576+9A>G	rs978347799	0.00001
NM_003384.3(VRK1):c.577-4A>G	rs1194395636	0.00001
NM_003384.3(VRK1):c.607C>T (p.Arg203Trp)	rs144600646	0.00001
NM_003384.3(VRK1):c.772C>T (p.His258Tyr)	rs761905254	0.00001
NM_003384.3(VRK1):c.1004A>G (p.Asp335Gly)	rs1888350254
NM_003384.3(VRK1):c.1013A>G (p.Lys338Arg)	rs779911846
NM_003384.3(VRK1):c.1070A>T (p.Lys357Met)	rs1595691552
NM_003384.3(VRK1):c.217-3A>G	rs1009112116
NM_003384.3(VRK1):c.418A>G (p.Lys140Glu)	rs764788560
NM_003384.3(VRK1):c.439A>G (p.Lys147Glu)	rs1888005284
NM_003384.3(VRK1):c.546TCT[2] (p.Leu185del)	rs774219368
NM_003384.3(VRK1):c.668G>T (p.Gly223Val)	rs1555361508
NM_003384.3(VRK1):c.706G>A (p.Val236Met)	rs771364038
NM_003384.3(VRK1):c.817G>C (p.Asp273His)	rs1595677216
NM_003384.3(VRK1):c.944C>T (p.Pro315Leu)	rs761494436
NM_003384.3(VRK1):c.962G>A (p.Arg321His)	rs200927943

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