ClinVar Miner

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

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002230.4(JUP):c.958C>T (p.Arg320Cys) rs200740462 0.00007
NM_002230.4(JUP):c.902A>G (p.Glu301Gly) rs782058451 0.00002
NM_002230.4(JUP):c.208+1G>A rs373761090 0.00001
NM_002230.4(JUP):c.1158+1G>T rs2143591648
NM_002230.4(JUP):c.1924+1G>A rs1597781765
NM_002230.4(JUP):c.468G>A (p.Pro156=) rs886037753

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