ClinVar Miner

List of variants in gene PRRT2 reported as uncertain significance by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 13
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HGVS dbSNP
NM_145239.3(PRRT2):c.1013T>C (p.Val338Ala) rs144540943
NM_145239.3(PRRT2):c.1020G>A (p.Lys340=) rs794727658
NM_145239.3(PRRT2):c.222C>G (p.Thr74=) rs1555502624
NM_145239.3(PRRT2):c.224C>T (p.Pro75Leu) rs147004110
NM_145239.3(PRRT2):c.347A>T (p.Lys116Ile) rs201468618
NM_145239.3(PRRT2):c.352G>A (p.Ala118Thr) rs201636905
NM_145239.3(PRRT2):c.582G>C (p.Glu194Asp) rs794727310
NM_145239.3(PRRT2):c.618A>T (p.Lys206Asn) rs1555502715
NM_145239.3(PRRT2):c.640G>C (p.Ala214Pro) rs745594874
NM_145239.3(PRRT2):c.879+6C>A rs201887920
NM_145239.3(PRRT2):c.880-20A>T rs727504110
NM_145239.3(PRRT2):c.913G>A (p.Gly305Arg) rs767799831
NM_145239.3(PRRT2):c.916G>A (p.Ala306Thr) rs727504111

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