ClinVar Miner

List of variants in gene PRRT2 studied for Episodic kinesigenic dyskinesia 1

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Total variants: 28
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HGVS dbSNP
NC_000016.9:g.(?_29824311)_(29827202_?)dup
NM_145239.3(PRRT2):c.173C>G (p.Pro58Arg) rs1567378768
NM_145239.3(PRRT2):c.293A>G (p.Asn98Ser) rs758787026
NM_145239.3(PRRT2):c.364C>A (p.Gln122Lys) rs1555502665
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala) rs79182085
NM_145239.3(PRRT2):c.415G>A (p.Ala139Thr) rs763634807
NM_145239.3(PRRT2):c.431C>T (p.Pro144Leu) rs1317648011
NM_145239.3(PRRT2):c.439G>C (p.Asp147His) rs79568162
NM_145239.3(PRRT2):c.483T>C (p.Pro161=) rs751980660
NM_145239.3(PRRT2):c.485C>T (p.Thr162Ile) rs755440222
NM_145239.3(PRRT2):c.487C>T (p.Gln163Ter) rs387907127
NM_145239.3(PRRT2):c.49_50del (p.Pro18fs)
NM_145239.3(PRRT2):c.510dup (p.Leu171fs) rs397515576
NM_145239.3(PRRT2):c.514_517del (p.Ser172fs) rs730882065
NM_145239.3(PRRT2):c.535_538del (p.Gln179fs) rs1555502708
NM_145239.3(PRRT2):c.629dup (p.Ala211fs) rs730882067
NM_145239.3(PRRT2):c.647C>G (p.Pro216Arg) rs76335820
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.680G>A (p.Arg227Gln) rs200849527
NM_145239.3(PRRT2):c.748C>T (p.Gln250Ter) rs397514579
NM_145239.3(PRRT2):c.796C>T (p.Arg266Trp) rs387907128
NM_145239.3(PRRT2):c.841T>C (p.Trp281Arg) rs1567380135
NM_145239.3(PRRT2):c.916G>C (p.Ala306Pro) rs727504111
NM_145239.3(PRRT2):c.967G>T (p.Gly323Trp) rs757940549
NM_145239.3(PRRT2):c.972_975del (p.Val325fs) rs1555502908
NM_145239.3(PRRT2):c.972del (p.Val325fs) rs730882066
NM_145239.3(PRRT2):c.990C>T (p.Ala330=) rs1322978278

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