ClinVar Miner

List of variants in gene PRRT2 reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_145239.3(PRRT2):c.1012G>A (p.Val338Met)
NM_145239.3(PRRT2):c.1013-29C>T rs745834081
NM_145239.3(PRRT2):c.1016A>G (p.Tyr339Cys) rs1596895035
NM_145239.3(PRRT2):c.221C>A (p.Thr74Asn) rs1394261454
NM_145239.3(PRRT2):c.224C>T (p.Pro75Leu) rs147004110
NM_145239.3(PRRT2):c.323_324del (p.Thr108fs) rs886041327
NM_145239.3(PRRT2):c.619_621del (p.Lys207del) rs768603598
NM_145239.3(PRRT2):c.640G>C (p.Ala214Pro) rs745594874
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_145239.3(PRRT2):c.811C>G (p.Leu271Val) rs1596892978
NM_145239.3(PRRT2):c.866C>T (p.Ala289Val) rs1446585759
NM_145239.3(PRRT2):c.912C>T (p.Asp304=) rs759633234

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