ClinVar Miner

List of variants in gene UBQLN2 studied for Amyotrophic Lateral Sclerosis, Dominant

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_013444.4(UBQLN2):c.*1258C>T rs41306757 0.01401
NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=) rs45559331 0.00516
NM_013444.4(UBQLN2):c.1383G>A (p.Gly461=) rs142250604 0.00313
NM_013444.4(UBQLN2):c.-163G>T rs192883799 0.00010
NM_013444.3(UBQLN2):c.-271G>C rs1057515974 0.00002
NM_013444.4(UBQLN2):c.*16T>C rs1057515977 0.00001
NM_013444.4(UBQLN2):c.1170C>T (p.Pro390=) rs1057515976 0.00001
NM_013444.4(UBQLN2):c.243A>G (p.Leu81=) rs778382794 0.00001
NM_013444.3(UBQLN2):c.-277A>C rs1057515973
NM_013444.4(UBQLN2):c.*1170dup rs1057515980
NM_013444.4(UBQLN2):c.*41G>T rs990201540
NM_013444.4(UBQLN2):c.*881A>G rs1057515979
NM_013444.4(UBQLN2):c.-55CT[5] rs1057515975

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