List of variants studied for Joubert syndrome 28 by Genome-Nilou Lab

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_017777.4(MKS1):c.858+9A>G	rs3826300	0.53797
NM_017777.4(MKS1):c.750-105T>C	rs3744105	0.53777
NM_017777.4(MKS1):c.261+67A>G	rs7225148	0.34782
NM_017777.4(MKS1):c.1024+128C>T	rs72839966	0.08242
NM_017777.4(MKS1):c.191-44G>A	rs73329636	0.06658
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)	rs200865108	0.00157
NM_017777.4(MKS1):c.190+2T>C	rs375170572	0.00004
NM_017777.4(MKS1):c.1465C>T (p.Arg489Cys)	rs1003579700	0.00001
NM_017777.4(MKS1):c.728C>T (p.Thr243Met)	rs749668169	0.00001
NM_017777.4(MKS1):c.763G>C (p.Gly255Arg)	rs201237547

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