ClinVar Miner

List of variants in gene LINS1 reported as pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter) rs149644940 0.00001
NM_001040616.3(LINS1):c.1219_1222+1del rs587777226
NM_001040616.3(LINS1):c.304del (p.Arg102fs) rs760477654
NM_001040616.3(LINS1):c.985_988del (p.His328_His329insTer) rs587777225

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