ClinVar Miner

List of variants in gene MVP-DT, PRRT2 studied for infancy electroclinical syndrome

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_145239.3(PRRT2):c.751T>C (p.Leu251=) rs11150573 0.99277
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys) rs140383655 0.00110
NM_145239.3(PRRT2):c.439G>C (p.Asp147His) rs79568162 0.00044
NM_145239.3(PRRT2):c.644C>G (p.Pro215Arg) rs200926711 0.00039
NM_145239.3(PRRT2):c.635A>G (p.Asn212Ser) rs779020826 0.00026
NM_145239.3(PRRT2):c.773G>A (p.Gly258Glu) rs560303559 0.00005
NM_145239.3(PRRT2):c.434G>A (p.Arg145Gln) rs200877676 0.00003
NM_145239.3(PRRT2):c.931C>T (p.Arg311Trp) rs760521217 0.00003
NM_145239.3(PRRT2):c.839T>C (p.Met280Thr) rs1419914220 0.00001
NM_145239.3(PRRT2):c.880-34G>A rs1239450803 0.00001
NM_145239.3(PRRT2):c.913G>A (p.Gly305Arg) rs767799831 0.00001
NM_145239.3(PRRT2):c.955G>T (p.Val319Leu) rs945627261 0.00001
NM_145239.3(PRRT2):c.959C>T (p.Ala320Val) rs1301400509 0.00001
NM_145239.3(PRRT2):c.-65-1G>A rs1900052727
NM_145239.3(PRRT2):c.1001T>A (p.Ile334Asn)
NM_145239.3(PRRT2):c.250del (p.Ala84fs) rs2142423353
NM_145239.3(PRRT2):c.284C>A (p.Ser95Ter)
NM_145239.3(PRRT2):c.291del (p.Asn98fs) rs730882073
NM_145239.3(PRRT2):c.304del (p.Glu102fs) rs1567379016
NM_145239.3(PRRT2):c.341_342del (p.Val114fs) rs1900077598
NM_145239.3(PRRT2):c.397del (p.Glu133fs)
NM_145239.3(PRRT2):c.436C>A (p.Pro146Thr) rs1900084663
NM_145239.3(PRRT2):c.46G>T (p.Glu16Ter)
NM_145239.3(PRRT2):c.515_516del (p.Leu171_Ser172insTer)
NM_145239.3(PRRT2):c.629del (p.Pro210fs) rs730882067
NM_145239.3(PRRT2):c.647C>A (p.Pro216His) rs76335820
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter) rs77838305
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.650del (p.Arg217fs) rs730882124
NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter) rs387907126
NM_145239.3(PRRT2):c.748C>T (p.Gln250Ter) rs397514579
NM_145239.3(PRRT2):c.835C>G (p.Pro279Ala)
NM_145239.3(PRRT2):c.879+5G>A rs1596893185
NM_145239.3(PRRT2):c.914G>A (p.Gly305Glu)
NM_145239.3(PRRT2):c.971del (p.Gly324fs) rs796052941
NM_145239.3(PRRT2):c.971dup (p.Val325fs) rs796052941

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