ClinVar Miner

List of variants reported as uncertain significance for Christianson syndrome

Included ClinVar conditions (1):
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Total variants: 20
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HGVS dbSNP
NC_000023.11:g.(?_135985483)_(136024503_?)dup
NM_001042537.1(SLC9A6):c.1042G>A (p.Val348Met) rs1556618832
NM_001042537.1(SLC9A6):c.1584C>T (p.Gly528=) rs782370742
NM_001042537.1(SLC9A6):c.1939A>G (p.Ser647Gly) rs558960349
NM_001042537.1(SLC9A6):c.1A>G (p.Met1Val)
NM_001042537.1(SLC9A6):c.2000T>G (p.Phe667Cys)
NM_001042537.1(SLC9A6):c.227_244del (p.Ile76_Leu81del) rs1603184929
NM_001042537.1(SLC9A6):c.269T>C (p.Leu90Pro) rs1556614843
NM_001042537.1(SLC9A6):c.362A>G (p.His121Arg) rs1060502675
NM_001042537.1(SLC9A6):c.367C>T (p.Pro123Ser) rs587784400
NM_001042537.1(SLC9A6):c.412A>G (p.Ser138Gly) rs587784401
NM_001042537.1(SLC9A6):c.549T>G (p.Phe183Leu) rs1603198044
NM_001042537.1(SLC9A6):c.581A>G (p.Tyr194Cys) rs1556616834
NM_001042537.1(SLC9A6):c.639A>G (p.Ala213=) rs781961294
NM_001042537.1(SLC9A6):c.643G>A (p.Ala215Thr) rs796053281
NM_001042537.1(SLC9A6):c.685A>G (p.Ile229Val) rs587784402
NM_001042537.1(SLC9A6):c.715G>A (p.Val239Ile) rs1556616995
NM_001042537.1(SLC9A6):c.7C>T (p.Arg3Trp) rs1556614701
NM_001042537.1(SLC9A6):c.808A>G (p.Ile270Val) rs782677140
NM_001042537.1(SLC9A6):c.8G>T (p.Arg3Leu) rs1016216648

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