List of variants reported as likely 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.190+2T>C	rs375170572	0.00004
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)	rs137853105	0.00003
NM_017777.4(MKS1):c.1394del (p.Pro465fs)	rs865870355
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)	rs386834044
NM_017777.4(MKS1):c.1483C>T (p.Gln495Ter)	rs2143737457
NM_017777.4(MKS1):c.367dup (p.Arg123fs)	rs775043799

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