ClinVar Miner

List of variants reported as uncertain significance for cobblestone lissencephaly by Counsyl

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_001243766.1(POMGNT1):c.1962_1964TCC[1] (p.Pro656del) rs780919404
NM_001243766.1(POMGNT1):c.1985+2_1985+5del rs1553162554
NM_001243766.1(POMGNT1):c.2031_2057del (p.Glu678_Leu686del) rs754791169
NM_001243766.1(POMGNT1):c.2100_2101dup (p.Ala701fs) rs940315351
NM_001243766.1(POMGNT1):c.2195G>A (p.Trp732Ter) rs866924336
NM_001243766.1(POMGNT1):c.2196G>A (p.Trp732Ter) rs764840485
NM_001243766.1(POMGNT1):c.2209del (p.Leu737fs) rs1553162438
NM_001243766.1(POMGNT1):c.2227C>T (p.Gln743Ter) rs769094628
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010
NM_006731.2(FKTN):c.*4859A>G rs1554768242
NM_006731.2(FKTN):c.*4859A>T rs1554768242
NM_006731.2(FKTN):c.-89+1G>C rs574535599
NM_006731.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998
NM_006731.2(FKTN):c.1201del (p.Trp401fs) rs1554766841
NM_006731.2(FKTN):c.1215_1226del (p.Asp406_Val409del) rs1554766855
NM_006731.2(FKTN):c.1249G>T (p.Glu417Ter) rs765934383
NM_006731.2(FKTN):c.1264_1286del (p.Asn422fs) rs1554766898
NM_006731.2(FKTN):c.175_180del (p.Lys59_Lys60del) rs1554751112
NM_006731.2(FKTN):c.189_191del (p.Met63_Leu64delinsIle) rs1554751136
NM_006731.2(FKTN):c.340G>A (p.Ala114Thr) rs119463995
NM_006731.2(FKTN):c.557A>G (p.His186Arg) rs1448279636
NM_017739.3(POMGNT1):c.1513G>A (p.Gly505Ser) rs760705290
NM_017739.3(POMGNT1):c.1842_1844del (p.Leu614del) rs1553162667
NM_017739.3(POMGNT1):c.1865T>C (p.Leu622Pro) rs377170894
NM_017739.3(POMGNT1):c.1947G>T (p.Lys649Asn) rs144068158
NM_017739.3(POMGNT1):c.1966_1974dup (p.Ala656_Glu658dup) rs1553162587
NM_017739.3(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575
NM_017739.3(POMGNT1):c.512_517dup (p.Arg171_Val172dup) rs1553163909
NM_017739.3(POMGNT1):c.794G>C (p.Arg265Pro) rs386834010

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