ClinVar Miner

List of variants reported as likely pathogenic for cobblestone lissencephaly by Invitae

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NC_000007.13:g.(?_16297995)_(16298657_?)del
NC_000007.13:g.(?_16298005)_(16298647_?)del
NC_000007.13:g.(?_16415697)_(16415886_?)del
NM_001101426.4(CRPPA):c.258-1G>C rs767978961
NM_001101426.4(CRPPA):c.835+2T>C
NM_001165928.3(DAG1):c.454_467del (p.Phe152fs) rs1553652513
NM_006731.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998
NM_006731.2(FKTN):c.780+2T>C
NM_007171.3(POMT1):c.1053-2A>C rs1453773610
NM_007171.3(POMT1):c.1338+2T>C rs1564365317
NM_007171.3(POMT1):c.1958C>T (p.Pro653Leu) rs149682171
NM_007171.3(POMT1):c.2005G>A (p.Ala669Thr) rs119462987
NM_013334.3(GMPPB):c.1069G>A (p.Val357Ile) rs199922550
NM_013382.5(POMT2):c.1485-2_1485-1del rs1185491348
NM_013382.5(POMT2):c.1752_1753CA[1] (p.Thr585fs) rs1555351894
NM_013382.5(POMT2):c.248+1G>C
NM_014254.3(RXYLT1):c.170-1del rs1565898123
NM_014254.3(RXYLT1):c.743+1G>A
NM_014254.3(RXYLT1):c.970C>T (p.Gln324Ter) rs1555228198
NM_021971.2(GMPPB):c.1000G>A rs397509422
NM_021971.2(GMPPB):c.1070G>A (p.Arg357His)
NM_021971.2(GMPPB):c.402+1G>A
NM_021971.2(GMPPB):c.640+1G>A
NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter)
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys) rs1247934219
NM_024301.5(FKRP):c.970G>T (p.Glu324Ter) rs886044183
NM_032806.6(POMGNT2):c.1042C>T (p.Gln348Ter)
NM_152490.5(B3GALNT2):c.652-2A>G rs1553347936
NM_152490.5(B3GALNT2):c.762+1G>A rs757347274
NM_152490.5(B3GALNT2):c.842-1G>C

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