ClinVar Miner

List of variants reported as uncertain significance for Gaucher disease due to saposin C deficiency

Included ClinVar conditions (3):
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Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_002778.4(PSAP):c.94T>G (p.Trp32Gly) rs200008050 0.00022
NM_002778.4(PSAP):c.*574G>C rs549402343 0.00010
NM_002778.4(PSAP):c.379C>T (p.Arg127Cys) rs148519599 0.00007
NM_002778.4(PSAP):c.*1008C>T rs537171961 0.00006
NM_002778.4(PSAP):c.*276G>A rs547409137 0.00006
NM_002778.4(PSAP):c.695G>A (p.Arg232His) rs147265566 0.00006
NM_002778.4(PSAP):c.*596A>G rs965039324 0.00005
NM_002778.4(PSAP):c.-22G>C rs569841336 0.00005
NM_002778.4(PSAP):c.*346C>T rs951110904 0.00004
NM_002778.4(PSAP):c.*787C>T rs932052243 0.00003
NM_002778.4(PSAP):c.380G>A (p.Arg127His) rs886047151 0.00003
NM_002778.4(PSAP):c.798G>A (p.Ala266=) rs199672678 0.00003
NM_002778.4(PSAP):c.923C>T (p.Pro308Leu) rs886047150 0.00003
NM_002778.4(PSAP):c.1197C>T (p.His399=) rs748761213 0.00002
NM_002778.4(PSAP):c.40+12G>A rs886047153 0.00002
NM_002778.4(PSAP):c.419C>T (p.Ser140Phe) rs1428436713 0.00002
NM_002778.4(PSAP):c.*238G>C rs1174797357 0.00001
NM_002778.4(PSAP):c.*90C>T rs1348415797 0.00001
NM_002778.4(PSAP):c.*935A>G rs886047148 0.00001
NM_002778.4(PSAP):c.1192G>A (p.Val398Ile) rs759178813 0.00001
NM_002778.4(PSAP):c.250-12G>A rs886047152 0.00001
NM_002778.4(PSAP):c.67A>G (p.Lys23Glu) rs143016278 0.00001
NM_002778.4(PSAP):c.*113C>T rs544214520
NM_002778.4(PSAP):c.*526G>A rs1842177081
NM_002778.4(PSAP):c.*73C>T rs541692197
NM_002778.4(PSAP):c.*859C>T rs886047149
NM_002778.4(PSAP):c.1329G>T (p.Leu443=) rs1842249121
NM_002778.4(PSAP):c.508C>G (p.Pro170Ala) rs761637109
NM_002778.4(PSAP):c.911A>G (p.Lys304Arg) rs757553906

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