List of variants in gene MKS1 reported as pathogenic for Joubert syndrome 28

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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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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