ClinVar Miner

List of variants studied for Meckel syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter) rs377177061 0.00006
NM_017777.4(MKS1):c.190+2T>C rs375170572 0.00004
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) rs370119681 0.00004
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs) rs758991387 0.00002
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750 0.00002
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys) rs118204052 0.00001
NM_017777.4(MKS1):c.515+1G>A rs201933838 0.00001
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro) rs762633090 0.00001
NM_025114.4(CEP290):c.297+1G>T rs878853360 0.00001
NM_025114.4(CEP290):c.5012+2T>C rs1369768287 0.00001
NC_000012.11:g.(88490777_88496614)_(88500876_88502842)del
NC_000012.11:g.(88519147_88520092)_(88530564_88532921)del
NM_001378615.1(CC2D2A):c.1160dup (p.Tyr387Ter)
NM_001378615.1(CC2D2A):c.1264_1268delinsGGCATGTTTTGGCAGCCA (p.Ser422fs)
NM_001378615.1(CC2D2A):c.1466+1G>A
NM_001378615.1(CC2D2A):c.1666del (p.Glu555_Ile556insTer) rs773740057
NM_001378615.1(CC2D2A):c.293_299del (p.Glu97_Phe98insTer)
NM_001378615.1(CC2D2A):c.3652C>T (p.Arg1218Ter) rs375278294
NM_001378615.1(CC2D2A):c.4175del (p.Pro1392fs)
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_017777.4(MKS1):c.1394del (p.Pro465fs) rs865870355
NM_017777.4(MKS1):c.1408-34_1408-6del rs386834043
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter) rs1555599412
NM_017777.4(MKS1):c.868_871del (p.Arg290fs)
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.4(CEP290):c.3012del (p.Glu1005fs) rs1555213204
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.5850del (p.Phe1950fs) rs386834159
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer) rs781310385
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs) rs763762899

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