ClinVar Miner

List of variants reported as pathogenic for Naxos disease

Included ClinVar conditions (2):
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Total variants: 8
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HGVS dbSNP
NM_002230.4(JUP):c.1455_1462del (p.Val486fs)
NM_002230.4(JUP):c.1615C>T (p.Gln539Ter) rs797046139
NM_002230.4(JUP):c.1807del (p.Val603fs)
NM_002230.4(JUP):c.188del (p.Gln63fs) rs1555606936
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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