ClinVar Miner

List of variants in gene LARGE1 reported as likely benign for cobblestone lissencephaly

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_004737.6(LARGE1):c.*154C>A rs73399512
NM_004737.6(LARGE1):c.*207G>A rs16992036
NM_004737.6(LARGE1):c.*740A>G rs116335813
NM_004737.6(LARGE1):c.*856G>A rs77663505
NM_004737.6(LARGE1):c.*921C>G rs16992034
NM_004737.6(LARGE1):c.-31G>A rs117199378
NM_004737.6(LARGE1):c.-460C>G rs114106875
NM_004737.6(LARGE1):c.-63C>T rs16992986
NM_004737.6(LARGE1):c.1008T>C (p.Asp336=) rs115076367
NM_004737.6(LARGE1):c.1548C>T (p.Tyr516=) rs34292743
NM_004737.6(LARGE1):c.165G>C (p.Thr55=) rs63446460
NM_004737.6(LARGE1):c.1827A>G (p.Ser609=) rs11913417
NM_004737.6(LARGE1):c.1949G>A (p.Arg650Gln) rs73399520
NM_004737.6(LARGE1):c.2100C>T (p.Asn700=) rs17722172
NM_004737.6(LARGE1):c.309C>T (p.Ser103=) rs59349720
NM_004737.6(LARGE1):c.576C>T (p.Pro192=) rs36002910

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