ClinVar Miner

List of variants studied for Farber lipogranulomatosis by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP
NM_004315.6(ASAH1):c.*164T>A rs886062780
NM_004315.6(ASAH1):c.*176_*177del rs374131883
NM_004315.6(ASAH1):c.*244C>T rs405308
NM_004315.6(ASAH1):c.*334G>A rs115127411
NM_004315.6(ASAH1):c.*368C>T rs17126181
NM_004315.6(ASAH1):c.*501T>C rs886062778
NM_004315.6(ASAH1):c.*686T>C rs886062777
NM_004315.6(ASAH1):c.*708_*711del rs35838806
NM_004315.6(ASAH1):c.*926A>C rs3810
NM_004315.6(ASAH1):c.*933T>C rs886062776
NM_004315.6(ASAH1):c.*961A>G rs553021299
NM_004315.6(ASAH1):c.126+371C>G rs886062782
NM_004315.6(ASAH1):c.126+380C>T rs35425490
NM_004315.6(ASAH1):c.126+391T>G rs34466559
NM_004315.6(ASAH1):c.126+399A>T rs539981182
NM_004315.6(ASAH1):c.126+443A>T rs549133239
NM_004315.6(ASAH1):c.126+514C>G rs546277660
NM_004315.6(ASAH1):c.126+517G>A rs139001299
NM_004315.6(ASAH1):c.126+616C>G rs371791165
NM_004315.6(ASAH1):c.231A>G (p.Arg77=) rs559209309
NM_004315.6(ASAH1):c.310G>A (p.Val104Met) rs368365768
NM_004315.6(ASAH1):c.430+9C>G rs371977439
NM_177924.5(ASAH1):c.*1073C>T rs7508
NM_177924.5(ASAH1):c.*1103C>T rs28393365
NM_177924.5(ASAH1):c.*124T>A rs417661
NM_177924.5(ASAH1):c.*160T>C rs574774
NM_177924.5(ASAH1):c.*178A>G rs886062779
NM_177924.5(ASAH1):c.*184T>A rs574114
NM_177924.5(ASAH1):c.*200C>T rs71526182
NM_177924.5(ASAH1):c.*356C>G rs141443856
NM_177924.5(ASAH1):c.*687C>G rs6771
NM_177924.5(ASAH1):c.*695C>T rs403910
NM_177924.5(ASAH1):c.*729T>C rs6770
NM_177924.5(ASAH1):c.*738C>G rs6769
NM_177924.5(ASAH1):c.*932C>T rs7002731
NM_177924.5(ASAH1):c.-27C>T rs371756048
NM_177924.5(ASAH1):c.-38C>T rs201935182
NM_177924.5(ASAH1):c.-6A>G rs200503438
NM_177924.5(ASAH1):c.1105G>A (p.Val369Ile) rs17636067
NM_177924.5(ASAH1):c.132A>T (p.Arg44Ser) rs373524235
NM_177924.5(ASAH1):c.214G>A (p.Val72Met) rs1071645
NM_177924.5(ASAH1):c.277A>G (p.Ile93Val) rs1049874
NM_177924.5(ASAH1):c.303+7G>A rs4921834
NM_177924.5(ASAH1):c.361G>A (p.Ala121Thr) rs146531900
NM_177924.5(ASAH1):c.372T>A (p.Asp124Glu) rs2472205
NM_177924.5(ASAH1):c.457+7G>A rs189892461
NM_177924.5(ASAH1):c.504-4A>G rs138920776
NM_177924.5(ASAH1):c.620A>T (p.Tyr207Phe) rs150268016
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr) rs141068211
NM_177924.5(ASAH1):c.704G>A (p.Gly235Asp) rs886062781
NM_177924.5(ASAH1):c.737T>C (p.Val246Ala) rs10103355
NM_177924.5(ASAH1):c.79-3C>T rs35513736
NM_177924.5(ASAH1):c.910G>C (p.Val304Leu) rs78267388

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