ClinVar Miner

List of variants in gene JUP reported as pathogenic for arrhythmogenic right ventricular dysplasia 12

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_002230.4(JUP):c.343C>T (p.Arg115Ter) rs782203227 0.00001
NM_002230.4(JUP):c.1121G>A (p.Trp374Ter)
NM_002230.4(JUP):c.113GCA[3] (p.Ser39dup) rs113994176
NM_002230.4(JUP):c.1205_1206del (p.Val402fs)
NM_002230.4(JUP):c.1258_1261del (p.Cys420fs)
NM_002230.4(JUP):c.1455_1462del (p.Val486fs) rs1597801392
NM_002230.4(JUP):c.1639C>T (p.Gln547Ter) rs2143456924
NM_002230.4(JUP):c.1807del (p.Val603fs) rs1597782553
NM_002230.4(JUP):c.1870G>T (p.Glu624Ter) rs2143426682
NM_002230.4(JUP):c.1876dup (p.Ala626fs)
NM_002230.4(JUP):c.188del (p.Gln63fs) rs1555606936
NM_002230.4(JUP):c.2038_2039del (p.Trp680fs) rs113994177
NM_002230.4(JUP):c.2039G>A (p.Trp680Ter) rs2143416425
NM_002230.4(JUP):c.222C>G (p.Tyr74Ter) rs2143697976
NM_002230.4(JUP):c.532_542del (p.Ala178fs) rs2143683612
NM_002230.4(JUP):c.545C>A (p.Ser182Ter) rs145592971
NM_002230.4(JUP):c.654del (p.Leu219fs) rs2143680611
NM_002230.4(JUP):c.687del (p.Ala230fs)
NM_002230.4(JUP):c.781_796del (p.Lys261fs) rs2143651415
NM_002230.4(JUP):c.873C>A (p.Cys291Ter)
NM_002230.4(JUP):c.916del (p.Ile306fs)

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