ClinVar Miner

List of variants studied for Joubert syndrome 28 by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.4(MKS1):c.1491-2A>G rs886038203
NM_017777.4(MKS1):c.1588+1G>T rs886038204

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