ClinVar Miner

List of variants studied for Christianson syndrome by Invitae

Included ClinVar conditions (1):
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Total variants: 41
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HGVS dbSNP
NC_000023.11:g.(?_135985483)_(136024503_?)dup
NM_001042537.1(SLC9A6):c.*8A>T rs200171451
NM_001042537.1(SLC9A6):c.1042G>A (p.Val348Met) rs1556618832
NM_001042537.1(SLC9A6):c.1185A>C (p.Ala395=) rs142049079
NM_001042537.1(SLC9A6):c.1237-8C>T rs1060504684
NM_001042537.1(SLC9A6):c.1239G>A (p.Leu413=) rs151178361
NM_001042537.1(SLC9A6):c.1320C>T (p.Val440=) rs1556619315
NM_001042537.1(SLC9A6):c.141C>T (p.Gly47=) rs139299794
NM_001042537.1(SLC9A6):c.1472G>A (p.Gly491Asp) rs1569525357
NM_001042537.1(SLC9A6):c.148G>T (p.Ala50Ser) rs367724979
NM_001042537.1(SLC9A6):c.1584C>T (p.Gly528=) rs782370742
NM_001042537.1(SLC9A6):c.1616+10A>G rs185533973
NM_001042537.1(SLC9A6):c.1616+4A>G rs180727016
NM_001042537.1(SLC9A6):c.1616+6T>C rs781963949
NM_001042537.1(SLC9A6):c.1648-3C>T rs563279759
NM_001042537.1(SLC9A6):c.1703G>A (p.Arg568Gln) rs146263125
NM_001042537.1(SLC9A6):c.171C>G (p.Ile57Met) rs782296172
NM_001042537.1(SLC9A6):c.1728-4G>A rs188072063
NM_001042537.1(SLC9A6):c.1755C>T (p.Ser585=) rs2307131
NM_001042537.1(SLC9A6):c.1899A>T (p.Thr633=) rs782629258
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.25G>T (p.Ala9Ser) rs201523857
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.369G>A (p.Pro123=) rs782600941
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.630T>C (p.Ser210=) rs144316388
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.672C>T (p.Phe224=) rs1423014570
NM_001042537.1(SLC9A6):c.705G>A (p.Thr235=) rs782386487
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.899+1G>A rs1556617455
NM_001042537.1(SLC9A6):c.8G>T (p.Arg3Leu) rs1016216648
NM_001042537.1(SLC9A6):c.900-6C>T rs17001258

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