ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome 28

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_017777.4(MKS1):c.370C>T (p.Arg124Ter) rs990955357 0.00001
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.4(MKS1):c.1273+1G>C rs933577333
NM_017777.4(MKS1):c.1408-34_1408-6del rs386834043
NM_017777.4(MKS1):c.1491-2A>G rs886038203
NM_017777.4(MKS1):c.1588+1G>T rs886038204

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