ClinVar Miner

List of variants in gene MKS1 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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HGVS dbSNP
NM_001165927.1(MKS1):c.1085_1087del (p.Ser362del) rs754279998
NM_001165927.1(MKS1):c.1136-2A>G rs1488635637
NM_001165927.1(MKS1):c.1378-2A>G rs1555596943
NM_001165927.1(MKS1):c.1404_1432del (p.Arg469fs) rs1555596845
NM_001165927.1(MKS1):c.154_160del (p.Thr52fs) rs386834046
NM_001165927.1(MKS1):c.160+2T>C rs375170572
NM_001165927.1(MKS1):c.478C>T (p.Arg160Ter) rs756853299
NM_001165927.1(MKS1):c.485+1G>A rs201933838
NM_001165927.1(MKS1):c.485+2T>G rs1376664664
NM_001165927.1(MKS1):c.50+232A>G rs1555601787
NM_001165927.1(MKS1):c.50+282_50+286dup rs386834051
NM_001165927.1(MKS1):c.50+313T>C rs386834052
NM_001165927.1(MKS1):c.799G>T (p.Glu267Ter) rs1555599412
NM_001165927.1(MKS1):c.814C>T (p.Arg272Ter) rs797045706
NM_001165927.1(MKS1):c.828+1G>A rs756102768
NM_001165927.1(MKS1):c.994+1G>A rs199874059
NM_001165927.1(MKS1):c.995-2A>C rs794727070
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048

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