List of variants in gene VRK1 reported as likely pathogenic for Pontocerebellar hypoplasia type 1A

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: 24

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HGVS	dbSNP	gnomAD frequency
NM_003384.3(VRK1):c.356A>G (p.His119Arg)	rs371295780	0.00003
NM_003384.3(VRK1):c.216+1G>C	rs774518440	0.00002
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)	rs773138218	0.00001
NM_003384.3(VRK1):c.889+1G>T	rs1482696609	0.00001
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter)	rs1223645705
NM_003384.3(VRK1):c.1069-2A>G
NM_003384.3(VRK1):c.1094del (p.Ser365fs)	rs2139845854
NM_003384.3(VRK1):c.1113_1117del (p.Glu371fs)	rs2139845924
NM_003384.3(VRK1):c.160+1G>T	rs2139749072
NM_003384.3(VRK1):c.161-2A>G
NM_003384.3(VRK1):c.216+1G>A
NM_003384.3(VRK1):c.236C>T (p.Pro79Leu)	rs2139779062
NM_003384.3(VRK1):c.287-2A>C
NM_003384.3(VRK1):c.374+1G>T
NM_003384.3(VRK1):c.483+1G>A
NM_003384.3(VRK1):c.576+1G>A
NM_003384.3(VRK1):c.637T>C (p.Tyr213His)	rs1595676477
NM_003384.3(VRK1):c.706G>A (p.Val236Met)	rs771364038
NM_003384.3(VRK1):c.710-1G>A
NM_003384.3(VRK1):c.788A>G (p.Asp263Gly)	rs1428656431
NM_003384.3(VRK1):c.812T>C (p.Val271Ala)	rs2139804166
NM_003384.3(VRK1):c.830+1G>C
NM_003384.3(VRK1):c.889+1G>A	rs1482696609
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter)	rs1566713184

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