ClinVar Miner

Variants in gene SUMF1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_182760.4(SUMF1):c.445-22T>C rs711634 0.03328
NM_182760.4(SUMF1):c.1077G>A (p.Ser359=) rs140751492 0.00285
NM_182760.4(SUMF1):c.642G>A (p.Ala214=) rs141017221 0.00199
NM_182760.4(SUMF1):c.606G>A (p.Pro202=) rs141957829 0.00016
NM_182760.4(SUMF1):c.*10_*11delinsGT rs71623163
NM_182760.4(SUMF1):c.954+7A>G rs560003466

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