ClinVar Miner

List of variants in gene C1GALT1C1 studied for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001011551.3(C1GALT1C1):c.266C>T (p.Thr89Ile)
NM_001011551.3(C1GALT1C1):c.553G>A (p.Gly185Arg)
NM_001011551.3(C1GALT1C1):c.59C>A (p.Ala20Asp)

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