ClinVar Miner

List of variants reported as pathogenic for hereditary spherocytosis type 2 by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NG_016202.2:g.(105169_105646)_(109769_110365)del
NM_001355436.2(SPTB):c.1912del (p.Arg638fs) rs863223304
NM_001355436.2(SPTB):c.1A>G (p.Met1Val) rs121918651
NM_001355436.2(SPTB):c.5266C>T (p.Arg1756Ter) rs267607086
NM_001355436.2(SPTB):c.604T>C (p.Trp202Arg) rs121918646

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