ClinVar Miner

List of variants reported as uncertain significance for Christianson syndrome

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 146
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HGVS dbSNP gnomAD frequency
NM_001379110.1(SLC9A6):c.524+3A>G rs372679456 0.00008
NM_001379110.1(SLC9A6):c.2021C>T (p.Thr674Met) rs886044780 0.00004
NM_001379110.1(SLC9A6):c.262A>G (p.Thr88Ala) rs372003999 0.00004
NM_001379110.1(SLC9A6):c.1055C>T (p.Thr352Met) rs782819852 0.00003
NM_001379110.1(SLC9A6):c.-56-25C>G rs782396686 0.00002
NM_001379110.1(SLC9A6):c.-56-4G>T rs782312727 0.00002
NM_001379110.1(SLC9A6):c.-57+27T>G rs1006154022 0.00002
NM_001379110.1(SLC9A6):c.-57+30C>T rs1334602422 0.00002
NM_001379110.1(SLC9A6):c.1157A>G (p.Asn386Ser) rs782772247 0.00002
NM_001379110.1(SLC9A6):c.1269G>C (p.Lys423Asn) rs781918578 0.00002
NM_001379110.1(SLC9A6):c.1555G>A (p.Gly519Ser) rs782731165 0.00002
NM_001379110.1(SLC9A6):c.1955T>C (p.Ile652Thr) rs2071568073 0.00002
NM_001379110.1(SLC9A6):c.1983G>A (p.Met661Ile) rs782730126 0.00002
NM_001379110.1(SLC9A6):c.-56-21C>A rs782242879 0.00001
NM_001379110.1(SLC9A6):c.-56-43C>G rs1556614733 0.00001
NM_001379110.1(SLC9A6):c.-57+26A>G rs782640388 0.00001
NM_001379110.1(SLC9A6):c.-57+33G>T rs1016216648 0.00001
NM_001379110.1(SLC9A6):c.1026A>G (p.Gln342=) rs1556618901 0.00001
NM_001379110.1(SLC9A6):c.1385C>T (p.Thr462Met) rs1229345478 0.00001
NM_001379110.1(SLC9A6):c.13A>C (p.Ile5Leu) rs1556614802 0.00001
NM_001379110.1(SLC9A6):c.1588C>A (p.Pro530Thr) rs782145804 0.00001
NM_001379110.1(SLC9A6):c.1711C>T (p.Leu571Phe) rs149360465 0.00001
NM_001379110.1(SLC9A6):c.1738A>T (p.Arg580Trp) rs144661402 0.00001
NM_001379110.1(SLC9A6):c.1765G>A (p.Glu589Lys) rs1556622379 0.00001
NM_001379110.1(SLC9A6):c.1873A>G (p.Ser625Gly) rs558960349 0.00001
NM_001379110.1(SLC9A6):c.1876G>A (p.Ala626Thr) rs1556623211 0.00001
NM_001379110.1(SLC9A6):c.1958G>A (p.Arg653Gln) rs1177738754 0.00001
NM_001379110.1(SLC9A6):c.2000C>T (p.Pro667Leu) rs782228236 0.00001
NM_001379110.1(SLC9A6):c.2006A>G (p.Asn669Ser) rs370119753 0.00001
NM_001379110.1(SLC9A6):c.212C>T (p.Pro71Leu) rs782469016 0.00001
NM_001379110.1(SLC9A6):c.233C>A (p.Thr78Asn) rs782644535 0.00001
NM_001379110.1(SLC9A6):c.256A>G (p.Ser86Gly) rs587784401 0.00001
NM_001379110.1(SLC9A6):c.448A>G (p.Arg150Gly) rs796053280 0.00001
NM_001379110.1(SLC9A6):c.452A>T (p.His151Leu) rs796053275 0.00001
NM_001379110.1(SLC9A6):c.461G>A (p.Arg154Gln) rs782262088 0.00001
NM_001379110.1(SLC9A6):c.475A>G (p.Ile159Val) rs1395246172 0.00001
NM_001379110.1(SLC9A6):c.529A>G (p.Ile177Val) rs587784402 0.00001
NM_001379110.1(SLC9A6):c.548C>T (p.Thr183Met) rs782759179 0.00001
NM_001379110.1(SLC9A6):c.559G>A (p.Val187Ile) rs1556616995 0.00001
NM_001379110.1(SLC9A6):c.652A>G (p.Ile218Val) rs782677140 0.00001
NM_001379110.1(SLC9A6):c.885+7T>G rs886044788 0.00001
NM_001379110.1(SLC9A6):c.886G>A (p.Val296Met) rs1556618832 0.00001
NC_000023.10:g.(?_135067662)_(135068006_?)dup
NC_000023.10:g.(?_135080247)_(135126903_?)dup
NC_000023.10:g.(?_135080257)_(135292184_?)dup
NC_000023.11:g.(?_135985483)_(136024503_?)dup
NM_001379110.1(SLC9A6):c.-20G>A rs782736274
NM_001379110.1(SLC9A6):c.-23G>A
NM_001379110.1(SLC9A6):c.-53G>C
NM_001379110.1(SLC9A6):c.-56-22C>T
NM_001379110.1(SLC9A6):c.-56-31C>T rs2148129457
NM_001379110.1(SLC9A6):c.-56-36G>A rs2089320091
NM_001379110.1(SLC9A6):c.-56-54G>T
NM_001379110.1(SLC9A6):c.-56-55G>C
NM_001379110.1(SLC9A6):c.-57+32C>T rs1556614701
NM_001379110.1(SLC9A6):c.-57+39G>C
NM_001379110.1(SLC9A6):c.-57+43G>C rs1012532789
NM_001379110.1(SLC9A6):c.-57+50G>C rs201523857
NM_001379110.1(SLC9A6):c.-57+53C>T rs2148129304
NM_001379110.1(SLC9A6):c.-5G>C
NM_001379110.1(SLC9A6):c.1037C>T (p.Thr346Met) rs2148174486
NM_001379110.1(SLC9A6):c.1080+17A>G rs2070960570
NM_001379110.1(SLC9A6):c.1132G>A (p.Gly378Arg)
NM_001379110.1(SLC9A6):c.113T>C (p.Leu38Pro) rs1556614843
NM_001379110.1(SLC9A6):c.1171C>A (p.Pro391Thr)
NM_001379110.1(SLC9A6):c.1183G>A (p.Val395Ile)
NM_001379110.1(SLC9A6):c.1201A>G (p.Ile401Val)
NM_001379110.1(SLC9A6):c.1223A>G (p.Asn408Ser) rs2148186858
NM_001379110.1(SLC9A6):c.1306+1G>C
NM_001379110.1(SLC9A6):c.1307-8C>T
NM_001379110.1(SLC9A6):c.130G>C (p.Ala44Pro) rs1556614849
NM_001379110.1(SLC9A6):c.1313G>A (p.Arg438His) rs2148189865
NM_001379110.1(SLC9A6):c.1330G>A (p.Ala444Thr)
NM_001379110.1(SLC9A6):c.133C>T (p.Arg45Cys)
NM_001379110.1(SLC9A6):c.1348A>G (p.Thr450Ala)
NM_001379110.1(SLC9A6):c.1387C>T (p.Leu463Phe) rs2148189943
NM_001379110.1(SLC9A6):c.138C>G (p.Phe46Leu)
NM_001379110.1(SLC9A6):c.1420G>T (p.Gly474Cys) rs2071193961
NM_001379110.1(SLC9A6):c.1438A>G (p.Met480Val)
NM_001379110.1(SLC9A6):c.1454A>G (p.His485Arg)
NM_001379110.1(SLC9A6):c.1582G>A (p.Gly528Ser) rs2071360759
NM_001379110.1(SLC9A6):c.1588C>G (p.Pro530Ala) rs782145804
NM_001379110.1(SLC9A6):c.1599A>T (p.Glu533Asp) rs781949645
NM_001379110.1(SLC9A6):c.1636C>T (p.Arg546Trp)
NM_001379110.1(SLC9A6):c.1638G>T (p.Arg546=) rs2148201776
NM_001379110.1(SLC9A6):c.163A>G (p.Ile55Val)
NM_001379110.1(SLC9A6):c.1664A>G (p.Tyr555Cys)
NM_001379110.1(SLC9A6):c.1690G>A (p.Gly564Arg) rs782196157
NM_001379110.1(SLC9A6):c.1690G>C (p.Gly564Arg)
NM_001379110.1(SLC9A6):c.1700T>C (p.Leu567Pro)
NM_001379110.1(SLC9A6):c.1718C>G (p.Ala573Gly)
NM_001379110.1(SLC9A6):c.1721G>A (p.Cys574Tyr) rs2148211264
NM_001379110.1(SLC9A6):c.1727G>A (p.Gly576Glu) rs2071482037
NM_001379110.1(SLC9A6):c.1735G>A (p.Ala579Thr)
NM_001379110.1(SLC9A6):c.1767+4A>G
NM_001379110.1(SLC9A6):c.1768A>C (p.Asn590His) rs2071563497
NM_001379110.1(SLC9A6):c.1814A>T (p.Asp605Val) rs1556623185
NM_001379110.1(SLC9A6):c.1817G>T (p.Gly606Val)
NM_001379110.1(SLC9A6):c.1826G>A (p.Ser609Asn) rs1401623269
NM_001379110.1(SLC9A6):c.1832C>T (p.Thr611Ile) rs2071564662
NM_001379110.1(SLC9A6):c.1871C>A (p.Ser624Tyr)
NM_001379110.1(SLC9A6):c.1891A>G (p.Met631Val)
NM_001379110.1(SLC9A6):c.1921C>T (p.Arg641Trp)
NM_001379110.1(SLC9A6):c.1934T>G (p.Phe645Cys) rs2071567769
NM_001379110.1(SLC9A6):c.1951G>A (p.Val651Ile)
NM_001379110.1(SLC9A6):c.1958G>T (p.Arg653Leu) rs1177738754
NM_001379110.1(SLC9A6):c.1996C>T (p.Pro666Ser) rs2071569462
NM_001379110.1(SLC9A6):c.2018A>G (p.Asn673Ser) rs2071570215
NM_001379110.1(SLC9A6):c.208G>T (p.Val70Phe)
NM_001379110.1(SLC9A6):c.211C>T (p.Pro71Ser) rs587784400
NM_001379110.1(SLC9A6):c.22G>C (p.Glu8Gln) rs2148129792
NM_001379110.1(SLC9A6):c.239G>A (p.Ser80Asn) rs1451637533
NM_001379110.1(SLC9A6):c.370-3C>T rs2148149795
NM_001379110.1(SLC9A6):c.370G>T (p.Val124Phe) rs1556616820
NM_001379110.1(SLC9A6):c.393T>G (p.Phe131Leu) rs1603198044
NM_001379110.1(SLC9A6):c.400A>G (p.Ile134Val) rs2089531604
NM_001379110.1(SLC9A6):c.425A>G (p.Tyr142Cys) rs1556616834
NM_001379110.1(SLC9A6):c.487G>A (p.Ala163Thr) rs796053281
NM_001379110.1(SLC9A6):c.506T>A (p.Ile169Asn)
NM_001379110.1(SLC9A6):c.533T>C (p.Met178Thr)
NM_001379110.1(SLC9A6):c.534G>A (p.Met178Ile) rs186896302
NM_001379110.1(SLC9A6):c.563C>T (p.Thr188Met) rs372747388
NM_001379110.1(SLC9A6):c.569A>G (p.Gln190Arg)
NM_001379110.1(SLC9A6):c.609T>G (p.Phe203Leu)
NM_001379110.1(SLC9A6):c.622T>A (p.Ser208Thr)
NM_001379110.1(SLC9A6):c.634C>G (p.Pro212Ala) rs2148151197
NM_001379110.1(SLC9A6):c.674A>G (p.Asp225Gly)
NM_001379110.1(SLC9A6):c.67C>G (p.Leu23Val)
NM_001379110.1(SLC9A6):c.682C>T (p.Leu228Phe) rs2148156546
NM_001379110.1(SLC9A6):c.71_88del (p.Ile24_Leu29del) rs1603184929
NM_001379110.1(SLC9A6):c.750A>G (p.Ile250Met)
NM_001379110.1(SLC9A6):c.766G>C (p.Ala256Pro)
NM_001379110.1(SLC9A6):c.775A>G (p.Asn259Asp)
NM_001379110.1(SLC9A6):c.803T>C (p.Met268Thr) rs2148169885
NM_001379110.1(SLC9A6):c.814A>G (p.Ile272Val)
NM_001379110.1(SLC9A6):c.81G>A (p.Leu27=) rs2089324822
NM_001379110.1(SLC9A6):c.821T>C (p.Ile274Thr)
NM_001379110.1(SLC9A6):c.825C>G (p.Phe275Leu) rs797044779
NM_001379110.1(SLC9A6):c.885+5C>T rs2070901186
NM_001379110.1(SLC9A6):c.897C>G (p.Phe299Leu)
NM_001379110.1(SLC9A6):c.902A>G (p.Lys301Arg) rs2148173863
NM_001379110.1(SLC9A6):c.932G>A (p.Gly311Asp)
NM_001379110.1(SLC9A6):c.959C>G (p.Thr320Ser) rs2148173982
NM_001379110.1(SLC9A6):c.971C>T (p.Ala324Val) rs2070952678
NM_001379110.1(SLC9A6):c.982G>A (p.Gly328Ser) rs1327086146
NM_001379110.1(SLC9A6):c.992-3T>C rs2070958568

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