ClinVar Miner

List of variants in gene combination CP, HPS3 reported as likely benign for anemia (disease)

Included ClinVar conditions (258):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000096.3(CP):c.*1157C>T rs11537809
NM_000096.3(CP):c.*137C>T rs34228141
NM_000096.3(CP):c.*768T>C rs35805816
NM_000096.3(CP):c.*879A>C rs144029944
NM_000096.3(CP):c.2991T>C (p.His997=) rs34394958
NM_000096.3(CP):c.3182-4A>G rs34272112
NM_032383.4(HPS3):c.*128A>G rs73019023
NM_032383.4(HPS3):c.*172G>A rs34511277

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