ClinVar Miner

List of variants in gene SLC9A7 studied for X-linked disease

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001257291.2(SLC9A7):c.1827C>T (p.Tyr609=) rs3208940 0.57691
NM_001257291.2(SLC9A7):c.144G>C (p.Ala48=) rs1056846 0.56828
NM_001257291.2(SLC9A7):c.1059A>G (p.Lys353=) rs750488234 0.00002
NM_001257291.2(SLC9A7):c.1520G>A (p.Arg507His) rs1231947331 0.00001
NM_001257291.2(SLC9A7):c.1112G>A (p.Ser371Asn) rs1943620091
NM_001257291.2(SLC9A7):c.1350T>G (p.Phe450Leu) rs2146777620
NM_001257291.2(SLC9A7):c.1447ATG[2] (p.Met485del) rs2146771598
NM_001257291.2(SLC9A7):c.1543C>T (p.Leu515Phe) rs1569507511
NM_001257291.2(SLC9A7):c.1667A>G (p.Gln556Arg)
NM_001257291.2(SLC9A7):c.1693G>A (p.Asp565Asn)
NM_001257291.2(SLC9A7):c.1999G>A (p.Gly667Arg)
NM_001257291.2(SLC9A7):c.2171A>T (p.Asp724Val)
NM_001257291.2(SLC9A7):c.460A>G (p.Thr154Ala)
NM_001257291.2(SLC9A7):c.706C>A (p.Leu236Ile)
NM_001257291.2(SLC9A7):c.947A>T (p.Asp316Val) rs764103078
NM_001257291.2(SLC9A7):c.988A>G (p.Ile330Val)

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