ClinVar Miner

List of variants reported as pathogenic for Meckel syndrome, type 4

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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CEP290, 1-BP DEL, 5489A
CEP290, 4-BP DEL, 384TAGA
CEP290, EX3, T-A, +2
NM_025114.3(CEP290):c.1066-1G>A rs965522059
NM_025114.3(CEP290):c.1078C>T (p.Arg360Ter) rs776645403
NM_025114.3(CEP290):c.1219_1220delAT (p.Met407Glufs) rs386834148
NM_025114.3(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277
NM_025114.3(CEP290):c.2991+1655A>G rs281865192
NM_025114.3(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286
NM_025114.3(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834
NM_025114.3(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409
NM_025114.3(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207
NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025114.3(CEP290):c.5745dup (p.Lys1916Terfs) rs751361090
NM_025114.3(CEP290):c.613C>T (p.Arg205Ter) rs137852835
NM_025114.3(CEP290):c.654T>G (p.Tyr218Ter) rs863225185

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