ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome 30 by OMIM

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP
NM_025139.5(ARMC9):c.1211_1334del (p.Arg405Alafs) rs1553611393
NM_025139.6(ARMC9):c.1027C>A (p.Arg343Ser) rs759799287
NM_025139.6(ARMC9):c.1027C>T (p.Arg343Cys) rs759799287
NM_025139.6(ARMC9):c.1336C>T (p.Arg446Cys) rs753432312
NM_025139.6(ARMC9):c.1474+1G>C rs1114167448
NM_025139.6(ARMC9):c.1474G>A (p.Gly492Arg) rs780265931
NM_025139.6(ARMC9):c.1559C>T (p.Pro520Leu) rs1114167449
NM_025139.6(ARMC9):c.205G>A (p.Gly69Arg) rs750247691
NM_025139.6(ARMC9):c.259C>T (p.Arg87Ter) rs372770167

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