ClinVar Miner

List of variants in gene SH2B3 studied for primary familial polycythemia due to EPO receptor mutation

Included ClinVar conditions (4):
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Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) rs3184504 0.66794
NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys) rs72650673 0.00080
NM_005475.3(SH2B3):c.1183G>A (p.Glu395Lys) rs148636776 0.00025
NM_005475.3(SH2B3):c.1A>G (p.Met1Val) rs376261237 0.00001
NM_005475.3(SH2B3):c.482C>T (p.Ala161Val)
NM_005475.3(SH2B3):c.622G>T (p.Glu208Ter) rs202080221

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