ClinVar Miner

List of variants in gene UBQLN2 reported as benign for anterior horn disorder

Included ClinVar conditions (149):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
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_013444.4(UBQLN2):c.51T>A (p.Pro17=) rs371163085 0.00010
NM_013444.4(UBQLN2):c.1302G>T (p.Leu434=) rs759543866 0.00007
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser) rs369947678 0.00005
NM_013444.4(UBQLN2):c.1715C>T (p.Ala572Val) rs772368310 0.00005
NM_013444.4(UBQLN2):c.1734A>G (p.Pro578=) rs1271440811 0.00001
NM_013444.4(UBQLN2):c.1173C>T (p.Tyr391=)
NM_013444.4(UBQLN2):c.1464T>C (p.Ala488=)
NM_013444.4(UBQLN2):c.1491CATAGGCCC[1] (p.499GPI[1])
NM_013444.4(UBQLN2):c.1752A>C (p.Gln584His)
NM_013444.4(UBQLN2):c.327G>C (p.Gln109His)
NM_013444.4(UBQLN2):c.359G>C (p.Gly120Ala)
NM_013444.4(UBQLN2):c.405T>C (p.Pro135=)

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