ClinVar Miner

List of variants studied for Joubert syndrome 28 by Counsyl

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)	rs773684291	0.00001
NM_017777.4(MKS1):c.1394del (p.Pro465fs)	rs865870355
NM_017777.4(MKS1):c.1408-34_1408-6del	rs386834043
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)	rs386834044
NM_017777.4(MKS1):c.367dup (p.Arg123fs)	rs775043799

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