ClinVar Miner

List of variants in gene VRK1 studied for Pontocerebellar hypoplasia type 1A

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Total variants: 39
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HGVS dbSNP
NM_003384.3(VRK1):c.*104A>G
NM_003384.3(VRK1):c.*107A>G rs375987917
NM_003384.3(VRK1):c.*171C>A
NM_003384.3(VRK1):c.*211A>G rs886050949
NM_003384.3(VRK1):c.*281G>A
NM_003384.3(VRK1):c.*302T>C
NM_003384.3(VRK1):c.*338A>G
NM_003384.3(VRK1):c.-11C>T
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) rs147853760
NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe) rs139734064
NM_003384.3(VRK1):c.1069-9A>G rs767585930
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063
NM_003384.3(VRK1):c.1118C>T (p.Thr373Met)
NM_003384.3(VRK1):c.1150A>G (p.Ile384Val) rs147604836
NM_003384.3(VRK1):c.1174_1177del (p.Lys392fs) rs749258908
NM_003384.3(VRK1):c.134A>G (p.Gln45Arg) rs1372198425
NM_003384.3(VRK1):c.161-14A>G
NM_003384.3(VRK1):c.161-3C>T rs746546400
NM_003384.3(VRK1):c.265C>T (p.Arg89Ter) rs772263867
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) rs773138218
NM_003384.3(VRK1):c.356A>G (p.His119Arg) rs371295780
NM_003384.3(VRK1):c.374+11G>A
NM_003384.3(VRK1):c.375-8G>C rs191021502
NM_003384.3(VRK1):c.397C>G (p.Arg133Gly) rs387906830
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys) rs387906830
NM_003384.3(VRK1):c.398G>A (p.Arg133His) rs758978677
NM_003384.3(VRK1):c.45A>G (p.Ala15=) rs2145635
NM_003384.3(VRK1):c.585G>C (p.Leu195Phe) rs748878251
NM_003384.3(VRK1):c.668G>T (p.Gly223Val) rs1555361508
NM_003384.3(VRK1):c.704G>A (p.Gly235Asp) rs1311364931
NM_003384.3(VRK1):c.705C>T (p.Gly235=) rs2230532
NM_003384.3(VRK1):c.706G>A (p.Val236Met) rs771364038
NM_003384.3(VRK1):c.828T>C (p.Ile276=)
NM_003384.3(VRK1):c.858G>T (p.Met286Ile) rs139476915
NM_003384.3(VRK1):c.879_882AAAC[1] (p.Lys295fs) rs779282547
NM_003384.3(VRK1):c.882C>G (p.Asn294Lys) rs541660707
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu) rs149661915
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys) rs772731615
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter) rs1566713184

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