ClinVar Miner

List of variants in gene STEEP1 studied for X-linked disease

Included ClinVar conditions (275):
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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_022101.4(STEEP1):c.-2T>C rs5910616 0.89242
NM_022101.4(STEEP1):c.375C>T (p.Gly125=) rs5910611 0.64193
NM_022101.4(STEEP1):c.158G>T (p.Arg53Leu) rs769335743
NM_022101.4(STEEP1):c.159_160insTA (p.Asp54Ter) rs1556220029
NM_022101.4(STEEP1):c.163del (p.Arg55fs) rs2147360775
NM_022101.4(STEEP1):c.169C>G (p.Arg57Gly)
NM_022101.4(STEEP1):c.229_230del (p.Met77fs)
NM_022101.4(STEEP1):c.44G>T (p.Arg15Leu) rs2053349208
NM_022101.4(STEEP1):c.492AGAGGA[1] (p.Glu167_Glu168del) rs2053171807
NM_022101.4(STEEP1):c.494A>G (p.Glu165Gly)
NM_022101.4(STEEP1):c.598C>T (p.Gln200Ter) rs1188300105
NM_022101.4(STEEP1):c.79del (p.Leu27fs)

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