ClinVar Miner

List of variants in gene LARGE1 reported as pathogenic for congenital nervous system disorder

Included ClinVar conditions (840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_133642.5(LARGE1):c.1483T>C (p.Trp495Arg) rs267607209 0.00001
NM_133642.5(LARGE1):c.1525G>A (p.Glu509Lys) rs121908675 0.00001
GRCh37/hg19 22q12.3(chr22:34152899-34236578)
LARGE1, GLN87FS
NC_000022.10:g.(33756233_33756918)_(33759931_33760459)delins42.9KB
NC_000022.10:g.(?_33559508)_(33673261_?)del
NC_000022.10:g.(?_33700195)_(33712254_?)del
NC_000022.10:g.(?_33712051)_(33733807_?)del
NC_000022.10:g.(?_33733612)_(33828271_?)del
NC_000022.10:g.(?_33733612)_(34157463_?)del
NC_000022.10:g.(?_33777885)_(33828271_?)del
NC_000022.10:g.(?_33828127)_(33961025_?)del
NC_000022.10:g.(?_33828137)_(34157473_?)del
NC_000022.10:g.(?_33960814)_(33961025_?)del
NC_000022.10:g.(?_33960814)_(34157463_?)del
NC_000022.10:g.(?_33960824)_(34022320_?)del
NC_000022.10:g.(?_34000401)_(34046674_?)del
NC_000022.10:g.(?_34000401)_(34157463_?)del
NC_000022.10:g.(?_34022208)_(34022330_?)del
NC_000022.10:g.(?_34022208)_(34157483_?)del
NC_000022.10:g.(?_34022218)_(34157473_?)del
NC_000022.10:g.(?_34157338)_(34157463_?)del
NC_000022.11:g.(?_33761351)_(33761496_?)del
NC_000022.11:g.(?_33761361)_(33761486_?)del
NG_009929.2:g.523149_586240del
NM_133642.5(LARGE1):c.1030C>T (p.Gln344Ter)
NM_133642.5(LARGE1):c.1209del (p.Phe404fs) rs1938637889
NM_133642.5(LARGE1):c.1390G>T (p.Glu464Ter)
NM_133642.5(LARGE1):c.1538dup (p.Leu514fs)
NM_133642.5(LARGE1):c.156dup (p.Arg53fs)
NM_133642.5(LARGE1):c.1616_1620delinsG (p.Gln539fs)
NM_133642.5(LARGE1):c.1671del (p.Tyr558fs)
NM_133642.5(LARGE1):c.1699del (p.Leu567fs) rs1934564024
NM_133642.5(LARGE1):c.171del (p.Ser58fs)
NM_133642.5(LARGE1):c.1811del (p.Leu604fs) rs2145893296
NM_133642.5(LARGE1):c.184_187del (p.Glu63fs)
NM_133642.5(LARGE1):c.1999dup (p.Cys667fs)
NM_133642.5(LARGE1):c.265C>T (p.Arg89Ter) rs1359437833
NM_133642.5(LARGE1):c.283C>T (p.Arg95Ter) rs761071115
NM_133642.5(LARGE1):c.334G>T (p.Glu112Ter) rs146078928
NM_133642.5(LARGE1):c.620_621del (p.Glu207fs) rs2148785084
NM_133642.5(LARGE1):c.864G>A (p.Trp288Ter)
NM_133642.5(LARGE1):c.941_945dup (p.Trp316fs)
NM_133642.5(LARGE1):c.96del (p.Ser33fs)
NM_133642.5(LARGE1):c.992C>T (p.Ser331Phe) rs267607210

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