ClinVar Miner

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

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000817.2(GAD1):c.-397T>G rs375137598 0.00402
NM_000817.2(GAD1):c.-292C>T rs572158214 0.00374
NM_000817.2(GAD1):c.-255G>A rs545676026 0.00353
NM_000817.3(GAD1):c.1173C>T (p.Asn391=) rs34856125 0.00094
NM_000817.3(GAD1):c.1251C>T (p.Leu417=) rs35426017 0.00094
NM_000817.3(GAD1):c.807G>A (p.Pro269=) rs34100397 0.00094
NM_000817.3(GAD1):c.1611+5G>A rs147201199 0.00070
NM_000817.3(GAD1):c.1002+4T>G rs139531653 0.00060
NM_000817.3(GAD1):c.399T>C (p.Asp133=) rs112737041 0.00058
NM_000817.3(GAD1):c.682A>C (p.Ile228Leu) rs45566933 0.00040
NM_000817.3(GAD1):c.*394G>A rs746308188 0.00036
NM_000817.3(GAD1):c.380A>T (p.Tyr127Phe) rs141004978 0.00036
NM_000817.3(GAD1):c.-176G>C rs886055095 0.00024
NM_000817.2(GAD1):c.-288T>C rs754019434 0.00023
NM_000817.3(GAD1):c.1120-8C>A rs113638388 0.00011
NM_000817.3(GAD1):c.*431G>A rs780421116 0.00009
NM_000817.3(GAD1):c.268C>T (p.Arg90Cys) rs373042715 0.00008
NM_000817.3(GAD1):c.*1205G>A rs45537831 0.00005
NM_000817.3(GAD1):c.*737G>A rs943528474 0.00004
NM_000817.3(GAD1):c.1184+6G>A rs755825439 0.00004
NM_000817.3(GAD1):c.1200C>T (p.Thr400=) rs200506981 0.00002
NM_000817.2(GAD1):c.-226T>C rs1489168699 0.00001
NM_000817.3(GAD1):c.*1129C>T rs973716380 0.00001
NM_000817.3(GAD1):c.*242A>C rs182824071 0.00001
NM_000817.3(GAD1):c.*419T>G rs1319931041 0.00001
NM_000817.3(GAD1):c.*989C>T rs1002008911 0.00001
NM_000817.3(GAD1):c.-53C>A rs886055097 0.00001
NM_000817.3(GAD1):c.147C>T (p.Gly49=) rs777912966 0.00001
NM_000817.3(GAD1):c.867+9G>A rs369785577 0.00001
NM_000817.2(GAD1):c.-276C>T rs931737060
NM_000817.2(GAD1):c.-395G>T rs376690436
NM_000817.3(GAD1):c.*1101G>A rs1702951481
NM_000817.3(GAD1):c.*1153T>C rs1702952602
NM_000817.3(GAD1):c.*561A>C rs1702940888
NM_000817.3(GAD1):c.*764G>T rs886055100
NM_000817.3(GAD1):c.-161G>A rs886055096
NM_000817.3(GAD1):c.-161G>T rs886055096
NM_000817.3(GAD1):c.-29A>G rs551237040
NM_000817.3(GAD1):c.-91G>C rs1701715157
NM_000817.3(GAD1):c.1252G>T (p.Val418Phe) rs143058194
NM_000817.3(GAD1):c.1290G>A (p.Met430Ile) rs761887714
NM_000817.3(GAD1):c.1614G>C (p.Val538=) rs886055099
NM_000817.3(GAD1):c.17C>T (p.Pro6Leu) rs886055098
NM_000817.3(GAD1):c.264C>G (p.Phe88Leu) rs1702169341
NM_000817.3(GAD1):c.265C>T (p.Arg89Trp) rs150841255
NM_000817.3(GAD1):c.933A>G (p.Ile311Met) rs1702617930

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