ClinVar Miner

List of variants reported as pathogenic for Christianson syndrome by Invitae

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_135067662)_(136652229_?)del
NC_000023.10:g.(?_135104725)_(135104876_?)del
NC_000023.10:g.(?_135104725)_(135106662_?)del
NC_000023.10:g.(?_135104735)_(135106652_?)del
NM_001379110.1(SLC9A6):c.1246_1249del (p.Leu416fs) rs2071147098
NM_001379110.1(SLC9A6):c.1644del (p.Trp548fs) rs2148201789
NM_001379110.1(SLC9A6):c.1684dup (p.His562fs)
NM_001379110.1(SLC9A6):c.370-9_370-5del rs796053290
NM_001379110.1(SLC9A6):c.445del (p.Arg149fs)
NM_001379110.1(SLC9A6):c.743+1G>A rs1556617455
NM_001379110.1(SLC9A6):c.743+3_743+6del rs2148156632
NM_001379110.1(SLC9A6):c.806dup (p.Lys270fs) rs2148169894
NM_001379110.1(SLC9A6):c.953G>A (p.Trp318Ter)
NM_001379110.1(SLC9A6):c.980G>A (p.Trp327Ter)

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