ClinVar Miner

List of variants reported as likely pathogenic for Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 by Fulgent Genetics, Fulgent Genetics

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Total variants: 24
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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.508C>T (p.Arg170Ter) rs756853299 0.00002
NM_017777.4(MKS1):c.958G>A (p.Val320Ile) rs386834053 0.00002
NM_017777.4(MKS1):c.1031C>G (p.Ser344Ter) rs760971749 0.00001
NM_017777.4(MKS1):c.1408-14A>G rs1194131222 0.00001
NM_017777.4(MKS1):c.191-1G>A rs201362733 0.00001
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter) rs797045706 0.00001
NM_017777.4(MKS1):c.859-2A>C rs1968931002 0.00001
NM_017777.4(MKS1):c.1071del (p.Cys358fs) rs762377424
NM_017777.4(MKS1):c.1074C>A (p.Cys358Ter) rs1411471923
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter) rs781423785
NM_017777.4(MKS1):c.1243dup (p.Tyr415fs)
NM_017777.4(MKS1):c.1273+1G>C rs933577333
NM_017777.4(MKS1):c.1394del (p.Pro465fs) rs865870355
NM_017777.4(MKS1):c.1408-1dup rs762668200
NM_017777.4(MKS1):c.1408-2del
NM_017777.4(MKS1):c.1491-2A>G rs886038203
NM_017777.4(MKS1):c.191-1G>T
NM_017777.4(MKS1):c.261+1G>T
NM_017777.4(MKS1):c.392_393del (p.Asp130_Ser131insTer) rs386834047
NM_017777.4(MKS1):c.499C>T (p.Gln167Ter) rs1215189491
NM_017777.4(MKS1):c.959-2A>G rs1273591389

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