ClinVar Miner

List of variants reported as uncertain significance for cobblestone lissencephaly by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP
NM_001165928.3(DAG1):c.424G>A (p.Gly142Arg) rs749962207
NM_004737.6(LARGE1):c.1413C>A (p.Ser471Arg)
NM_004737.6(LARGE1):c.1420G>A (p.Val474Ile) rs150861748
NM_004737.6(LARGE1):c.211G>A (p.Glu71Lys) rs116164106
NM_006731.2(FKTN):c.1228C>A (p.His410Asn) rs146272618
NM_006731.2(FKTN):c.1337A>G (p.Asn446Ser) rs374912618
NM_006731.2(FKTN):c.383G>A (p.Arg128Gln) rs146049441
NM_006731.2(FKTN):c.559G>A (p.Gly187Ser) rs1187674499
NM_006876.3(B4GAT1):c.758C>G (p.Thr253Ser)
NM_007171.3(POMT1):c.1216G>A (p.Gly406Ser) rs146234177
NM_007171.3(POMT1):c.1319C>T (p.Ala440Val) rs369651101
NM_007171.3(POMT1):c.1565G>A (p.Arg522Lys) rs117985576
NM_007171.3(POMT1):c.2125G>A (p.Ala709Thr) rs535544133
NM_007171.3(POMT1):c.2233C>T (p.Arg745Ter) rs202202445
NM_007171.3(POMT1):c.818C>T (p.Pro273Leu) rs139660235
NM_007171.3(POMT1):c.855G>C (p.Leu285Phe) rs201073763
NM_007171.3(POMT1):c.913A>C (p.Ser305Arg) rs747506380
NM_013382.5(POMT2):c.1300C>T (p.Arg434Trp)
NM_013382.5(POMT2):c.1903G>A (p.Val635Ile) rs142299878
NM_013382.5(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_014254.3(RXYLT1):c.17A>G (p.Lys6Arg) rs145516652
NM_017739.3(POMGNT1):c.1010T>C (p.Ile337Thr) rs138745073
NM_017739.3(POMGNT1):c.1456C>G (p.Arg486Gly) rs534543454
NM_017739.3(POMGNT1):c.269G>A (p.Arg90His) rs139701867
NM_017739.3(POMGNT1):c.319C>A (p.Arg107Ser) rs375420073
NM_017739.3(POMGNT1):c.355G>A (p.Val119Met) rs148498470
NM_017739.3(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035
NM_024301.5(FKRP):c.1019A>T (p.Tyr340Phe) rs1322997651
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp) rs758759348
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) rs199714523
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008
NM_024301.5(FKRP):c.904G>A (p.Gly302Ser) rs762283381
NM_152490.5(B3GALNT2):c.43G>A (p.Ala15Thr) rs997345764

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