ClinVar Miner

List of variants studied for Niemann-Pick disease, type C2 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_006432.5(NPC2):c.88G>A (p.Val30Met) rs151220873 0.00122
NM_006432.5(NPC2):c.271G>A (p.Asp91Asn) rs148607507 0.00022
NM_006432.5(NPC2):c.292A>C (p.Asn98His) rs142858704 0.00021
NM_006432.5(NPC2):c.333T>G (p.Asn111Lys) rs757377148 0.00005
NM_006432.5(NPC2):c.58G>A (p.Glu20Lys) rs80358260
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter) rs80358260

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