ClinVar Miner

List of variants reported as likely pathogenic for Farber lipogranulomatosis by Medical Affairs, Dicerna Pharmaceuticals

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_177924.5(ASAH1):c.677G>C (p.Arg226Pro) rs377749094 0.00003
NM_177924.5(ASAH1):c.997C>T (p.Arg333Cys) rs543697946 0.00003
NM_177924.5(ASAH1):c.1098+1G>T rs763842677 0.00001
NM_177924.5(ASAH1):c.1175G>A (p.Cys392Tyr) rs746513660 0.00001
NM_177924.5(ASAH1):c.538G>A (p.Glu180Lys) rs762756953 0.00001
NM_177924.5(ASAH1):c.1084C>A (p.Pro362Thr) rs1588973247
NM_177924.5(ASAH1):c.1096A>C (p.Lys366Gln) rs1588973202
NM_177924.5(ASAH1):c.290T>G (p.Val97Gly) rs1588989964
NM_177924.5(ASAH1):c.314T>C (p.Leu105Pro) rs1588986195
NM_177924.5(ASAH1):c.408T>A (p.Phe136Leu) rs1588982421
NM_177924.5(ASAH1):c.412G>T (p.Glu138Ter) rs1588982399
NM_177924.5(ASAH1):c.457+4A>G rs767864356
NM_177924.5(ASAH1):c.593T>C (p.Val198Ala) rs1588978706
NM_177924.5(ASAH1):c.704-2A>G rs1588977181
NM_177924.5(ASAH1):c.770T>C (p.Leu257Pro) rs1588977010
NM_177924.5(ASAH1):c.833C>T (p.Pro278Leu) rs895669204
NM_177924.5(ASAH1):c.917+5G>A rs1588974593
NM_177924.5(ASAH1):c.92G>T (p.Cys31Phe) rs1588999402
NM_177924.5(ASAH1):c.959A>G (p.Asn320Ser) rs1588974267
NM_177924.5(ASAH1):c.998G>A (p.Arg333His) rs1588974098

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