ClinVar Miner

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

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Total variants: 18
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NM_001321268.2(MKS1):c.-328_-322del rs386834046
NM_001321268.2(MKS1):c.-461_-457dup rs386834051
NM_001321269.2(MKS1):c.1408-141_1408-113del rs1555596845
NM_017777.3(MKS1):c.1024+1G>A rs199874059
NM_017777.3(MKS1):c.1025-2A>C rs794727070
NM_017777.3(MKS1):c.1166-2A>G rs1488635637
NM_017777.3(MKS1):c.1408-2A>G rs1555596943
NM_017777.3(MKS1):c.190+2T>C rs375170572
NM_017777.3(MKS1):c.1A>G (p.Met1Val) rs1555601787
NM_017777.3(MKS1):c.508C>T (p.Arg170Ter) rs756853299
NM_017777.3(MKS1):c.515+1G>A rs201933838
NM_017777.3(MKS1):c.515+2T>G rs1376664664
NM_017777.3(MKS1):c.80+2T>C rs386834052
NM_017777.3(MKS1):c.829G>T (p.Glu277Ter) rs1555599412
NM_017777.3(MKS1):c.844C>T (p.Arg282Ter) rs797045706
NM_017777.3(MKS1):c.858+1G>A rs756102768
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048

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