ClinVar Miner

List of variants in gene SLC9A6 reported as pathogenic for Christianson syndrome

Included ClinVar conditions (1):
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_135104725)_(135104876_?)del
NC_000023.10:g.(?_135104725)_(135106662_?)del
NC_000023.10:g.(?_135104735)_(135106652_?)del
NM_001042537:c.916delC
NM_001379110.1(SLC9A6):c.1246_1249del (p.Leu416fs) rs2071147098
NM_001379110.1(SLC9A6):c.1307-1G>A rs1603215383
NM_001379110.1(SLC9A6):c.1342C>T (p.Arg448Ter) rs122461162
NM_001379110.1(SLC9A6):c.1573G>T (p.Glu525Ter) rs398123003
NM_001379110.1(SLC9A6):c.1599_1603del (p.Arg534fs) rs1603219805
NM_001379110.1(SLC9A6):c.1644del (p.Trp548fs) rs2148201789
NM_001379110.1(SLC9A6):c.1684dup (p.His562fs)
NM_001379110.1(SLC9A6):c.2012T>G (p.Leu671Ter) rs587784399
NM_001379110.1(SLC9A6):c.27del (p.Lys9fs) rs587784398
NM_001379110.1(SLC9A6):c.370-9_370-5del rs796053290
NM_001379110.1(SLC9A6):c.420_421del (p.Phe141fs) rs1603198063
NM_001379110.1(SLC9A6):c.445del (p.Arg149fs)
NM_001379110.1(SLC9A6):c.447+3_447+4delinsCC rs730882187
NM_001379110.1(SLC9A6):c.448-1G>A rs797044508
NM_001379110.1(SLC9A6):c.452_453del (p.His151fs) rs730882188
NM_001379110.1(SLC9A6):c.704_709del (p.Glu235_Ser236del) rs886037619
NM_001379110.1(SLC9A6):c.726del (p.Ala243fs) rs1057519394
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.856_864del (p.Gly286_Ala288del) rs398122849
NM_001379110.1(SLC9A6):c.886-1C>A rs149044510
NM_001379110.1(SLC9A6):c.916C>T (p.Gln306Ter) rs398124224
NM_001379110.1(SLC9A6):c.953G>A (p.Trp318Ter)
NM_001379110.1(SLC9A6):c.980G>A (p.Trp327Ter)
NM_001379110.1(SLC9A6):c.992G>A (p.Gly331Asp) rs782108464

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