ClinVar Miner

List of variants in gene ERLIN2 reported as likely benign for Spastic paraplegia

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Gene type:
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_007175.8(ERLIN2):c.384C>T (p.Cys128=) rs200292614 0.00008
NM_007175.8(ERLIN2):c.219T>C (p.Asn73=) rs377044758 0.00006
NM_007175.8(ERLIN2):c.557+10C>T rs376022913 0.00006
NM_007175.8(ERLIN2):c.820-17T>G rs1311010843 0.00006
NM_007175.8(ERLIN2):c.366C>T (p.His122=) rs374568375 0.00003
NM_007175.8(ERLIN2):c.425-8T>C rs966254756 0.00002
NM_007175.8(ERLIN2):c.687C>T (p.Tyr229=) rs528363730 0.00002
NM_007175.8(ERLIN2):c.1017T>C (p.Asn339=) rs776398153 0.00001
NM_007175.8(ERLIN2):c.144T>C (p.Gly48=) rs769021055 0.00001
NM_007175.8(ERLIN2):c.420G>A (p.Leu140=) rs774116062 0.00001
NM_007175.8(ERLIN2):c.589G>A (p.Ala197Thr) rs149254654 0.00001
NM_007175.8(ERLIN2):c.771G>A (p.Lys257=) rs760169548 0.00001
NM_007175.8(ERLIN2):c.807C>T (p.Ala269=) rs767299905 0.00001
NM_007175.8(ERLIN2):c.1002G>A (p.Thr334=)
NM_007175.8(ERLIN2):c.107+14_107+15del
NM_007175.8(ERLIN2):c.108-15C>T
NM_007175.8(ERLIN2):c.177T>C (p.Tyr59=)
NM_007175.8(ERLIN2):c.190-19A>G
NM_007175.8(ERLIN2):c.21T>G (p.Val7=)
NM_007175.8(ERLIN2):c.299-4_299-3del rs778852699
NM_007175.8(ERLIN2):c.408C>G (p.Val136=) rs1554516566
NM_007175.8(ERLIN2):c.424+9G>C
NM_007175.8(ERLIN2):c.483T>C (p.Pro161=)
NM_007175.8(ERLIN2):c.549C>T (p.Tyr183=)
NM_007175.8(ERLIN2):c.553T>C (p.Leu185=)
NM_007175.8(ERLIN2):c.557+12C>T
NM_007175.8(ERLIN2):c.557+14C>G
NM_007175.8(ERLIN2):c.557+17C>A
NM_007175.8(ERLIN2):c.573A>T (p.Thr191=)
NM_007175.8(ERLIN2):c.597A>G (p.Lys199=)
NM_007175.8(ERLIN2):c.739+13G>A
NM_007175.8(ERLIN2):c.777T>C (p.Asp259=) rs764440061
NM_007175.8(ERLIN2):c.819+11C>T
NM_007175.8(ERLIN2):c.819+13C>T
NM_007175.8(ERLIN2):c.820-6T>A
NM_007175.8(ERLIN2):c.849G>C (p.Leu283=)
NM_007175.8(ERLIN2):c.873C>G (p.Ser291=)
NM_007175.8(ERLIN2):c.927G>A (p.Ala309=)

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