ClinVar Miner

List of variants in gene PRRT2 reported as likely benign for Paroxysmal kinesigenic dyskinesia

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Gene type:
ClinVar version:
Total variants: 51
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HGVS dbSNP
NM_145239.3(PRRT2):c.1012+7G>A
NM_145239.3(PRRT2):c.1020G>A (p.Lys340=) rs794727658
NM_145239.3(PRRT2):c.115G>A (p.Ala39Thr)
NM_145239.3(PRRT2):c.133C>T (p.Pro45Ser) rs11556732
NM_145239.3(PRRT2):c.144G>A (p.Pro48=)
NM_145239.3(PRRT2):c.15C>T (p.Ser5=)
NM_145239.3(PRRT2):c.171C>T (p.Ala57=) rs771487218
NM_145239.3(PRRT2):c.183A>G (p.Ser61=) rs775396962
NM_145239.3(PRRT2):c.192G>A (p.Lys64=)
NM_145239.3(PRRT2):c.201G>A (p.Leu67=) rs1416186042
NM_145239.3(PRRT2):c.222C>G (p.Thr74=) rs1555502624
NM_145239.3(PRRT2):c.225G>A (p.Pro75=) rs199662641
NM_145239.3(PRRT2):c.279G>A (p.Gly93=) rs1596890586
NM_145239.3(PRRT2):c.299G>A (p.Ser100Asn) rs1596890680
NM_145239.3(PRRT2):c.303C>T (p.Pro101=) rs570325174
NM_145239.3(PRRT2):c.354C>T (p.Ala118=)
NM_145239.3(PRRT2):c.357T>G (p.Thr119=) rs137942866
NM_145239.3(PRRT2):c.37G>A (p.Gly13Arg) rs770164221
NM_145239.3(PRRT2):c.39G>A (p.Gly13=)
NM_145239.3(PRRT2):c.417T>C (p.Ala139=) rs1596891097
NM_145239.3(PRRT2):c.418C>T (p.Pro140Ser)
NM_145239.3(PRRT2):c.432C>T (p.Pro144=) rs749031499
NM_145239.3(PRRT2):c.435G>T (p.Arg145=)
NM_145239.3(PRRT2):c.519G>A (p.Glu173=) rs372588022
NM_145239.3(PRRT2):c.528G>A (p.Gly176=) rs749569594
NM_145239.3(PRRT2):c.580G>A (p.Glu194Lys) rs139516010
NM_145239.3(PRRT2):c.623C>A (p.Ser208Tyr) rs201409113
NM_145239.3(PRRT2):c.624C>T (p.Ser208=)
NM_145239.3(PRRT2):c.642C>A (p.Ala214=) rs1237572544
NM_145239.3(PRRT2):c.647C>A (p.Pro216His) rs76335820
NM_145239.3(PRRT2):c.648C>G (p.Pro216=) rs772805935
NM_145239.3(PRRT2):c.648C>T (p.Pro216=) rs772805935
NM_145239.3(PRRT2):c.651A>G (p.Arg217=)
NM_145239.3(PRRT2):c.66C>T (p.Gly22=) rs775756146
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys) rs140383655
NM_145239.3(PRRT2):c.702G>A (p.Gly234=)
NM_145239.3(PRRT2):c.708A>G (p.Pro236=)
NM_145239.3(PRRT2):c.709G>A (p.Gly237Arg) rs199556853
NM_145239.3(PRRT2):c.723T>C (p.Gly241=)
NM_145239.3(PRRT2):c.753G>A (p.Leu251=)
NM_145239.3(PRRT2):c.773G>A (p.Gly258Glu) rs560303559
NM_145239.3(PRRT2):c.855C>T (p.Ile285=)
NM_145239.3(PRRT2):c.879+10A>G
NM_145239.3(PRRT2):c.879+8C>T
NM_145239.3(PRRT2):c.880-10C>T
NM_145239.3(PRRT2):c.880-5C>T
NM_145239.3(PRRT2):c.912C>T (p.Asp304=) rs759633234
NM_145239.3(PRRT2):c.936A>T (p.Val312=) rs1057520864
NM_145239.3(PRRT2):c.945C>G (p.Leu315=)
NM_145239.3(PRRT2):c.961C>T (p.Leu321=) rs756741951
NM_145239.3(PRRT2):c.996C>T (p.Cys332=)

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