ClinVar Miner

List of variants in gene combination SP110, SP140 reported as not provided for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_080424.4(SP110):c.342C>A (p.Ser114Arg) rs1559178549 0.00001
NM_080424.4(SP110):c.319_325dup (p.Ser109fs) rs397515569
NM_080424.4(SP110):c.373del (p.Thr125fs) rs397515570
NM_080424.4(SP110):c.40del (p.Gln14fs) rs397515362
NM_080424.4(SP110):c.642del (p.Ser215fs) rs397515361
NM_080424.4(SP110):c.667+1dup rs397515571

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