ClinVar Miner

List of variants reported as pathogenic for Naxos disease by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_002230.4(JUP):c.1615C>T (p.Gln539Ter) rs797046139
NM_002230.4(JUP):c.2038_2039del (p.Trp680fs) rs113994177
NM_002230.4(JUP):c.468G>A (p.Pro156=) rs886037753
NM_002230.4(JUP):c.71C>A (p.Ser24Ter) rs782460555
NM_002230.4(JUP):c.794G>A (p.Arg265His) rs782440692

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