ClinVar Miner

List of variants in gene ASAH1 reported as benign for Farber lipogranulomatosis

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_177924.5(ASAH1):c.737T>C (p.Val246Ala) rs10103355 0.87079
NM_177924.5(ASAH1):c.*1073C>T rs7508 0.77181
NM_177924.5(ASAH1):c.457+45A>G rs2073574 0.64032
NM_177924.5(ASAH1):c.458-68T>C rs7824644 0.48338
NM_177924.5(ASAH1):c.303+53T>G rs4921567 0.42485
NM_177924.5(ASAH1):c.214G>A (p.Val72Met) rs1071645 0.42367
NM_177924.5(ASAH1):c.277A>G (p.Ile93Val) rs1049874 0.42365
NM_177924.5(ASAH1):c.126-21A>G rs12547845 0.42360
NM_177924.5(ASAH1):c.126-100C>T rs12549594 0.42357
NM_177924.5(ASAH1):c.126-1873G>A rs3753115 0.42287
NM_177924.5(ASAH1):c.303+7G>A rs4921834 0.42285
NM_177924.5(ASAH1):c.303+117T>C rs2427746 0.35577
NM_177924.5(ASAH1):c.304-42G>A rs12675283 0.34950
NM_177924.5(ASAH1):c.303+21C>A rs2106037 0.34725
NM_177924.5(ASAH1):c.503+71G>A rs6586683 0.33468
NM_177924.5(ASAH1):c.382+84C>A rs115973081 0.32897
NM_177924.5(ASAH1):c.503+127G>A rs7387930 0.32681
NM_177924.5(ASAH1):c.*124T>A rs417661 0.25434
NM_177924.5(ASAH1):c.704-19T>C rs17515291 0.21755
NM_177924.5(ASAH1):c.*729T>C rs6770 0.17217
NM_177924.5(ASAH1):c.*687C>G rs6771 0.16885
NM_177924.5(ASAH1):c.*738C>G rs6769 0.15644
NM_177924.5(ASAH1):c.79-3C>T rs35513736 0.10703
NM_177924.5(ASAH1):c.*244C>T rs405308 0.09459
NM_177924.5(ASAH1):c.*160T>C rs574774 0.09443
NM_177924.5(ASAH1):c.*184T>A rs574114 0.09419
NM_177924.5(ASAH1):c.*695C>T rs403910 0.06926
NM_177924.5(ASAH1):c.*1103C>T rs28393365 0.05803
NM_177924.5(ASAH1):c.*932C>T rs7002731 0.04112
NM_177924.5(ASAH1):c.372T>A (p.Asp124Glu) rs2472205 0.03317
NM_177924.5(ASAH1):c.*200C>T rs71526182 0.02429
NM_177924.5(ASAH1):c.649-8T>C rs143116317 0.00484
NM_177924.5(ASAH1):c.666A>G (p.Thr222=) rs34475490 0.00484
NM_177924.5(ASAH1):c.1105G>A (p.Val369Ile) rs17636067 0.00379
NM_177924.5(ASAH1):c.*334G>A rs115127411
NM_177924.5(ASAH1):c.*708_*711del rs35838806
NM_177924.5(ASAH1):c.*926A>C rs3810
NM_177924.5(ASAH1):c.*926A>T rs3810
NM_177924.5(ASAH1):c.1098+120T>G rs420610
NM_177924.5(ASAH1):c.216+46TATTT[3] rs35875004
NM_177924.5(ASAH1):c.458-81T>A rs7824650
NM_177924.5(ASAH1):c.79-50G>A rs34482943

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