ClinVar Miner

List of variants reported as likely pathogenic for Meckel syndrome, type 1 by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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NM_001080522.2(CC2D2A):c.3975+4_3975+7delAGTA rs386833759
NM_017777.3(MKS1):c.190+2T>C rs375170572
NM_025114.3(CEP290):c.1523-1G>T rs1192112844
NM_025114.3(CEP290):c.180+1G>A rs758593134
NM_025114.3(CEP290):c.4437+1G>A rs760915898
NM_025114.3(CEP290):c.4438-3delC rs747323414
NM_025114.3(CEP290):c.4813-2A>G rs369523378
NM_025114.3(CEP290):c.6358-1G>A rs766670248
NM_025114.3(CEP290):c.6645+1G>A rs201218801
NM_025114.4(CEP290):c.6818_6818+1dup rs1060499781
NM_153704.5(TMEM67):c.1774-6_1774-3delinsATAA rs1554556213

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