ClinVar Miner

List of variants reported as uncertain significance 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: 29
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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.*368C>T rs17126181
NM_004315.6(ASAH1):c.*501T>C rs886062778
NM_004315.6(ASAH1):c.*686T>C rs886062777
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+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.*178A>G rs886062779
NM_177924.5(ASAH1):c.*356C>G rs141443856
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.132A>T (p.Arg44Ser) rs373524235
NM_177924.5(ASAH1):c.361G>A (p.Ala121Thr) rs146531900
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.910G>C (p.Val304Leu) rs78267388

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