ClinVar Miner

List of variants reported as uncertain significance for galactosemia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_000155.4(GALT):c.*105A>G rs183251779 0.00329
NM_000155.4(GALT):c.510C>A (p.Ile170=) rs61735984 0.00290
NM_001008216.2(GALE):c.529-12C>T rs369293480 0.00169
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721 0.00124
NM_000155.4(GALT):c.919T>A (p.Ser307Thr) rs61735983 0.00101
NM_000154.2(GALK1):c.864G>C (p.Thr288=) rs201247556 0.00083
NM_000154.2(GALK1):c.746C>T (p.Ala249Val) rs149825190 0.00066
NM_001008216.2(GALE):c.*178G>A rs1803612 0.00058
NM_000155.4(GALT):c.687+9G>C rs117998880 0.00057
NM_001008216.2(GALE):c.873+13_873+14insA rs765063773 0.00050
NM_000154.2(GALK1):c.66G>A (p.Glu22=) rs367558510 0.00045
NM_000155.3(GALT):c.-88G>A rs144505931 0.00042
NM_000154.2(GALK1):c.747G>A (p.Ala249=) rs140053358 0.00037
NM_000155.4(GALT):c.*8G>A rs370285476 0.00029
NM_001008216.2(GALE):c.369G>A (p.Gly123=) rs138148991 0.00029
NM_001008216.2(GALE):c.997C>A (p.Leu333Ile) rs199614710 0.00029
NM_000154.2(GALK1):c.*85C>T rs542735255 0.00026
NM_000154.2(GALK1):c.-22T>C rs545362817 0.00026
NM_000154.2(GALK1):c.447G>A (p.Thr149=) rs765744088 0.00024
NM_001008216.2(GALE):c.423C>T (p.Tyr141=) rs138518245 0.00024
NM_001008216.2(GALE):c.447C>G (p.Pro149=) rs571625657 0.00017
NM_000155.4(GALT):c.1132A>G (p.Ile378Val) rs111033819 0.00014
NM_000155.4(GALT):c.688-4C>T rs374014228 0.00014
NM_001008216.2(GALE):c.376A>G (p.Asn126Asp) rs771656737 0.00014
NM_000155.4(GALT):c.507+12C>T rs199572263 0.00013
NM_000154.2(GALK1):c.1044C>T (p.Phe348=) rs372653001 0.00012
NM_000154.2(GALK1):c.1096C>T (p.Arg366Trp) rs536478616 0.00011
NM_000155.4(GALT):c.378-12G>A rs151309174 0.00011
NM_001008216.2(GALE):c.*192T>C rs576468712 0.00010
NM_001008216.2(GALE):c.647C>T (p.Ala216Val) rs542192037 0.00010
NM_000154.2(GALK1):c.165+6G>A rs779996721 0.00006
NM_000154.2(GALK1):c.267G>T (p.Gln89His) rs144915547 0.00006
NM_000154.2(GALK1):c.742C>T (p.Arg248Trp) rs541580127 0.00006
NM_000155.4(GALT):c.1128A>T (p.Ala376=) rs781374930 0.00006
NM_000155.4(GALT):c.211C>T (p.Leu71Phe) rs143994870 0.00006
NM_001008216.2(GALE):c.307G>T (p.Asp103Tyr) rs542486536 0.00006
NM_000154.2(GALK1):c.1152C>T (p.Ala384=) rs373041566 0.00005
NM_000154.2(GALK1):c.856C>T (p.Arg286Trp) rs370987432 0.00005
NM_000155.4(GALT):c.611G>A (p.Arg204Gln) rs111033740 0.00005
NM_001008216.2(GALE):c.506G>A (p.Arg169Gln) rs140878602 0.00005
NM_000155.4(GALT):c.270T>C (p.Asp90=) rs1300102277 0.00004
NM_001008216.2(GALE):c.*69G>A rs543116262 0.00004
NM_001008216.2(GALE):c.-77+340G>C rs568182391 0.00004
NM_001008216.2(GALE):c.319G>A (p.Val107Ile) rs770332379 0.00004
NM_001008216.2(GALE):c.874-9G>A rs764448821 0.00004
NM_000154.2(GALK1):c.-44C>T rs758902207 0.00003
NM_000155.4(GALT):c.904+2T>G rs886063885 0.00003
NM_001008216.2(GALE):c.923A>G (p.Tyr308Cys) rs780393850 0.00003
NM_001008216.2(GALE):c.988+7G>A rs200182186 0.00003
NM_000154.2(GALK1):c.289C>T (p.Arg97Cys) rs371641311 0.00002
NM_000154.2(GALK1):c.703G>A (p.Glu235Lys) rs764167059 0.00002
NM_000154.2(GALK1):c.1024C>T (p.Arg342Cys) rs769167240 0.00001
NM_000154.2(GALK1):c.1117G>A (p.Gly373Ser) rs773416475 0.00001
NM_000154.2(GALK1):c.1120G>A (p.Gly374Arg) rs201811960 0.00001
NM_000154.2(GALK1):c.203G>T (p.Arg68Leu) rs754230597 0.00001
NM_000154.2(GALK1):c.485C>G (p.Thr162Arg) rs555279924 0.00001
NM_000154.2(GALK1):c.786G>A (p.Glu262=) rs756263074 0.00001
NM_000154.2(GALK1):c.814A>G (p.Lys272Glu) rs558638718 0.00001
NM_000154.2(GALK1):c.995C>T (p.Ala332Val) rs886053419 0.00001
NM_000155.4(GALT):c.378-7C>T rs751084584 0.00001
NM_000155.4(GALT):c.773G>A (p.Arg258His) rs773766027 0.00001
NM_000155.4(GALT):c.843G>A (p.Lys281=) rs368298966 0.00001
NM_001008216.2(GALE):c.-77+168T>G rs924261949 0.00001
NM_001008216.2(GALE):c.192G>A (p.Glu64=) rs748354696 0.00001
NM_001008216.2(GALE):c.238-6C>T rs751079525 0.00001
NM_001008216.2(GALE):c.648G>A (p.Ala216=) rs144723215 0.00001
NM_001008216.2(GALE):c.955G>C (p.Gly319Arg) rs752384408 0.00001
NM_000154.2(GALK1):c.-27A>C rs767223937
NM_000154.2(GALK1):c.396A>G (p.Ser132=) rs766401384
NM_000154.2(GALK1):c.787C>T (p.Leu263=) rs886053420
NM_000155.3(GALT):c.-38G>A rs886063883
NM_000155.4(GALT):c.*138C>T rs1821232966
NM_000155.4(GALT):c.*18C>G rs771618527
NM_000155.4(GALT):c.*96A>C rs967576667
NM_000155.4(GALT):c.409G>A (p.Val137Ile) rs1821146618
NM_000155.4(GALT):c.450T>A (p.Val150=) rs886063884
NM_000155.4(GALT):c.936C>G (p.Asn312Lys) rs771975129
NM_001008216.2(GALE):c.*12T>G rs1638931716
NM_001008216.2(GALE):c.*158G>A rs1343467826
NM_001008216.2(GALE):c.*326_*328dup rs557214506
NM_001008216.2(GALE):c.*327A>T rs535702110
NM_001008216.2(GALE):c.-77+205C>G rs910285433
NM_001008216.2(GALE):c.330C>T (p.Thr110=) rs377557637
NM_001008216.2(GALE):c.450G>A (p.Thr150=) rs566884215
NM_001008216.2(GALE):c.989-13C>T rs199622680

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