ClinVar Miner

Variants in gene NPC2 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_006432.5(NPC2):c.450T>C (p.His150=) rs374489111 0.00027
NM_006432.5(NPC2):c.292A>C (p.Asn98His) rs142858704 0.00021
NM_006432.5(NPC2):c.270T>C (p.Pro90=) rs758503440 0.00006
NM_006432.5(NPC2):c.240C>T (p.Gly80=) rs773836291 0.00001
NM_006432.5(NPC2):c.414C>A (p.Leu138=) rs1323196897 0.00001
NM_006432.5(NPC2):c.165C>T (p.Tyr55=) rs2086712268

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