ClinVar Miner

List of variants studied for hereditary spherocytosis type 2 by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001355436.2(SPTB):c.4178del (p.Lys1393fs)
NM_001355436.2(SPTB):c.6055T>C (p.Ser2019Pro) rs121918648
NM_001355436.2(SPTB):c.6074T>G (p.Leu2025Arg) rs121918649
NM_003126.4(SPTA1):c.145C>T (p.Leu49Phe) rs121918639

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