ClinVar Miner

List of variants in gene combination MVP-DT, PRRT2 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_145239.3(PRRT2):c.880-34G>A rs1239450803 0.00001
NM_145239.3(PRRT2):c.1021T>A (p.Ter341Arg) rs1403034524
NM_145239.3(PRRT2):c.525del (p.Glu177fs) rs1596891528
NM_145239.3(PRRT2):c.577dup (p.Glu193fs) rs1131692000
NM_145239.3(PRRT2):c.593_594del (p.Pro198fs) rs1260966131
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.650del (p.Arg217fs) rs730882124
NM_145239.3(PRRT2):c.823T>C (p.Ser275Pro) rs1064793238
NM_145239.3(PRRT2):c.85G>T (p.Glu29Ter) rs1555502574
NM_145239.3(PRRT2):c.872C>A (p.Ala291Asp) rs796052936
NM_145239.3(PRRT2):c.884G>A (p.Arg295Gln) rs1468206811
NM_145239.3(PRRT2):c.898dup (p.Gln300fs)
NM_145239.3(PRRT2):c.922C>T (p.Arg308Cys) rs932713001
NM_145239.3(PRRT2):c.963_978delinsTA (p.Val322fs) rs2142429320
NM_145239.3(PRRT2):c.970G>A (p.Gly324Arg) rs906768870
NM_145239.3(PRRT2):c.971G>C (p.Gly324Ala) rs796052938
NM_145239.3(PRRT2):c.971del (p.Gly324fs) rs796052941

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