ClinVar Miner

List of variants in gene ARMC9 reported as pathogenic for Joubert syndrome 30

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys) rs759799287 0.00011
NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg) rs750247691 0.00002
NM_001352754.2(ARMC9):c.100G>T (p.Glu34Ter) rs1330612935 0.00001
NM_001352754.2(ARMC9):c.1336C>T (p.Arg446Cys) rs753432312 0.00001
NM_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg) rs780265931 0.00001
NM_001352754.2(ARMC9):c.1027C>A (p.Arg343Ser) rs759799287
NM_001352754.2(ARMC9):c.1211-434_1335-1595delinsGTTTGTTTGTTTGTTTGCATTA
NM_001352754.2(ARMC9):c.1474+1G>C rs1114167448
NM_001352754.2(ARMC9):c.1559C>T (p.Pro520Leu) rs1114167449
NM_001352754.2(ARMC9):c.259C>T (p.Arg87Ter) rs372770167

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