ClinVar Miner

List of variants in gene MKS1 reported as likely pathogenic for Meckel syndrome, type 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_017777.3(MKS1):c.1024+1G>A rs199874059
NM_017777.3(MKS1):c.1025-2A>C rs794727070
NM_017777.3(MKS1):c.1048C>G (p.Gln350Glu) rs386834041
NM_017777.3(MKS1):c.1048C>T (p.Gln350Ter) rs386834041
NM_017777.3(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.3(MKS1):c.1166-2A>G rs1488635637
NM_017777.3(MKS1):c.1394del (p.Pro465fs) rs865870355
NM_017777.3(MKS1):c.1407+2delT rs386834042
NM_017777.3(MKS1):c.1408-2A>G rs1555596943
NM_017777.3(MKS1):c.1434_1462del (p.Arg479fs) rs1555596845
NM_017777.3(MKS1):c.1450_1453dup (p.Thr485fs) rs386834044
NM_017777.3(MKS1):c.1490G>A (p.Arg497Lys) rs386834045
NM_017777.3(MKS1):c.184_190del (p.Thr62fs) rs386834046
NM_017777.3(MKS1):c.190+2T>C rs375170572
NM_017777.3(MKS1):c.1A>G (p.Met1Val) rs1555601787
NM_017777.3(MKS1):c.367dup (p.Arg123fs) rs775043799
NM_017777.3(MKS1):c.390_391CT[1] (p.Asp130_Ser131insTer) rs386834047
NM_017777.3(MKS1):c.417G>A (p.Glu139=) rs386834048
NM_017777.3(MKS1):c.424C>T (p.Gln142Ter) rs386834049
NM_017777.3(MKS1):c.472C>T (p.Arg158Ter) rs386834050
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.51_55dup (p.Asp19fs) rs386834051
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_017777.3(MKS1):c.958G>A (p.Val320Ile) rs386834053

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