ClinVar Miner

List of variants studied for Gaucher disease due to saposin C deficiency by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002778.4(PSAP):c.379C>T (p.Arg127Cys) rs148519599 0.00007
NM_002778.4(PSAP):c.695G>A (p.Arg232His) rs147265566 0.00006
NM_002778.4(PSAP):c.679_681del (p.Lys227del) rs1431844269 0.00003
NM_002778.4(PSAP):c.1192G>A (p.Val398Ile) rs759178813 0.00001
NM_002778.4(PSAP):c.67A>G (p.Lys23Glu) rs143016278 0.00001
NM_002778.4(PSAP):c.570G>T (p.Gln190His) rs142272618

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