ClinVar Miner

List of variants in gene ERLIN2 studied for Spastic paraplegia

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Gene type:
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Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_007175.8(ERLIN2):c.318C>T (p.Asn106=) rs16887018 0.02568
NM_007175.8(ERLIN2):c.816T>C (p.Asn272=) rs142722211 0.00412
NM_007175.8(ERLIN2):c.696G>A (p.Lys232=) rs138164407 0.00311
NM_007175.8(ERLIN2):c.557+8T>C rs181608326 0.00141
NM_007175.8(ERLIN2):c.123G>A (p.Leu41=) rs112575270 0.00103
NM_007175.8(ERLIN2):c.649+9G>A rs187766017 0.00096
NM_007175.8(ERLIN2):c.819+12G>A rs117553056 0.00068
NM_007175.8(ERLIN2):c.558-20C>T rs76777169 0.00055
NM_007175.8(ERLIN2):c.819+3A>G rs377704533 0.00014
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.820C>A (p.Leu274Met) rs1481759100 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.220G>A (p.Val74Ile) rs1802860785 0.00001
NM_007175.8(ERLIN2):c.298+5G>A rs368268528 0.00001
NM_007175.8(ERLIN2):c.389T>C (p.Val130Ala) rs371713211 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.688G>A (p.Gly230Arg) rs752925074 0.00001
NM_007175.8(ERLIN2):c.76A>T (p.Ile26Leu) rs1302684546 0.00001
NM_007175.8(ERLIN2):c.771G>A (p.Lys257=) rs760169548 0.00001
NM_007175.8(ERLIN2):c.772G>T (p.Ala258Ser) rs368687557 0.00001
NM_007175.8(ERLIN2):c.807C>T (p.Ala269=) rs767299905 0.00001
NM_007175.8(ERLIN2):c.862G>C (p.Ala288Pro) rs907287913 0.00001
NM_007175.8(ERLIN2):c.899A>T (p.Asp300Val) rs763958615 0.00001
NM_007175.8(ERLIN2):c.1002G>A (p.Thr334=)
NM_007175.8(ERLIN2):c.1002_1007del (p.Ala335_Thr336del) rs797045563
NM_007175.8(ERLIN2):c.1004C>A (p.Ala335Asp) rs1563318442
NM_007175.8(ERLIN2):c.1017T>G (p.Asn339Lys)
NM_007175.8(ERLIN2):c.106A>G (p.Arg36Gly)
NM_007175.8(ERLIN2):c.107+14_107+15del
NM_007175.8(ERLIN2):c.108-15C>T
NM_007175.8(ERLIN2):c.136G>A (p.Gly46Ser)
NM_007175.8(ERLIN2):c.148C>T (p.His50Tyr) rs143647454
NM_007175.8(ERLIN2):c.154A>C (p.Met52Leu)
NM_007175.8(ERLIN2):c.177T>C (p.Tyr59=)
NM_007175.8(ERLIN2):c.179dup (p.Ser61fs)
NM_007175.8(ERLIN2):c.187C>A (p.Gln63Lys) rs1802811311
NM_007175.8(ERLIN2):c.190-19A>G
NM_007175.8(ERLIN2):c.205G>C (p.Asp69His) rs1802859943
NM_007175.8(ERLIN2):c.207T>G (p.Asp69Glu)
NM_007175.8(ERLIN2):c.207_209del (p.Asp69del)
NM_007175.8(ERLIN2):c.21T>G (p.Val7=)
NM_007175.8(ERLIN2):c.237-2A>G rs751227210
NM_007175.8(ERLIN2):c.237-3T>C
NM_007175.8(ERLIN2):c.246G>A (p.Val82=)
NM_007175.8(ERLIN2):c.246GAT[1] (p.Met83del) rs1802960804
NM_007175.8(ERLIN2):c.249G>T (p.Met83Ile)
NM_007175.8(ERLIN2):c.250A>G (p.Ile84Val)
NM_007175.8(ERLIN2):c.254A>T (p.Tyr85Phe)
NM_007175.8(ERLIN2):c.277A>G (p.Asn93Asp) rs1554516498
NM_007175.8(ERLIN2):c.299-4_299-3del rs778852699
NM_007175.8(ERLIN2):c.303T>A (p.Tyr101Ter) rs1052410160
NM_007175.8(ERLIN2):c.303del (p.Val100_Tyr101insTer)
NM_007175.8(ERLIN2):c.334G>A (p.Asp112Asn)
NM_007175.8(ERLIN2):c.362A>C (p.His121Pro)
NM_007175.8(ERLIN2):c.367G>T (p.Glu123Ter) rs1393816662
NM_007175.8(ERLIN2):c.385A>G (p.Ser129Gly) rs1802975180
NM_007175.8(ERLIN2):c.406G>A (p.Val136Ile) rs1338086200
NM_007175.8(ERLIN2):c.406G>C (p.Val136Leu)
NM_007175.8(ERLIN2):c.408C>G (p.Val136=) rs1554516566
NM_007175.8(ERLIN2):c.413T>C (p.Ile138Thr)
NM_007175.8(ERLIN2):c.424+9G>C
NM_007175.8(ERLIN2):c.452C>T (p.Ala151Val) rs1554517327
NM_007175.8(ERLIN2):c.461A>C (p.Gln154Pro) rs1803168761
NM_007175.8(ERLIN2):c.46del (p.Cys16fs) rs1585896928
NM_007175.8(ERLIN2):c.473C>T (p.Ser158Phe)
NM_007175.8(ERLIN2):c.483T>C (p.Pro161=)
NM_007175.8(ERLIN2):c.502G>A (p.Val168Met) rs1803173923
NM_007175.8(ERLIN2):c.520A>G (p.Asn174Asp) rs1258969957
NM_007175.8(ERLIN2):c.532G>A (p.Ala178Thr)
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+15C>T
NM_007175.8(ERLIN2):c.557+17C>A
NM_007175.8(ERLIN2):c.573A>T (p.Thr191=)
NM_007175.8(ERLIN2):c.577C>T (p.Leu193Phe)
NM_007175.8(ERLIN2):c.597A>G (p.Lys199=)
NM_007175.8(ERLIN2):c.622G>C (p.Glu208Gln)
NM_007175.8(ERLIN2):c.707A>G (p.Lys236Arg)
NM_007175.8(ERLIN2):c.737A>C (p.Glu246Ala)
NM_007175.8(ERLIN2):c.739+13G>A
NM_007175.8(ERLIN2):c.740-5C>G rs191003311
NM_007175.8(ERLIN2):c.758G>A (p.Arg253Gln)
NM_007175.8(ERLIN2):c.777T>C (p.Asp259=) rs764440061
NM_007175.8(ERLIN2):c.77T>C (p.Ile26Thr)
NM_007175.8(ERLIN2):c.805G>T (p.Ala269Ser)
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.820-6del
NM_007175.8(ERLIN2):c.820-6dup
NM_007175.8(ERLIN2):c.836A>C (p.Glu279Ala)
NM_007175.8(ERLIN2):c.849G>C (p.Leu283=)
NM_007175.8(ERLIN2):c.853A>T (p.Lys285Ter) rs1803294545
NM_007175.8(ERLIN2):c.873C>G (p.Ser291=)
NM_007175.8(ERLIN2):c.879C>T (p.Ser293=)
NM_007175.8(ERLIN2):c.899A>G (p.Asp300Gly)
NM_007175.8(ERLIN2):c.918G>A (p.Met306Ile)
NM_007175.8(ERLIN2):c.927G>A (p.Ala309=)
NM_007175.8(ERLIN2):c.94G>T (p.Gly32Trp) rs1554515558
NM_007175.8(ERLIN2):c.992C>T (p.Pro331Leu)

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