ClinVar Miner

List of variants reported as benign for Fabry disease by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_019597.5(HNRNPH2):c.-54+353C>G rs3027580 0.06337
NM_000169.2(GLA):c.-30G>A rs3027584 0.00873
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
NM_000169.3(GLA):c.640-854_640-853del rs201655854

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