ClinVar Miner

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

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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NM_000096.4(CP):c.*1081T>A rs188137938
NM_000096.4(CP):c.*343A>G rs886058085
NM_000096.4(CP):c.*373C>G rs370247691
NM_000096.4(CP):c.*509A>C rs13098532
NM_000096.4(CP):c.*572A>G rs561191589
NM_000096.4(CP):c.*583T>C rs886058084
NM_000096.4(CP):c.*912C>G rs149920453
NM_000096.4(CP):c.3185C>A (p.Thr1062Asn)

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