ClinVar Miner

List of variants in gene SPG11 reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp) rs145643238 0.00103
NM_025137.4(SPG11):c.1384T>C (p.Cys462Arg) rs139019255 0.00058
NM_025137.4(SPG11):c.763A>G (p.Lys255Glu) rs139091750 0.00049
NM_025137.4(SPG11):c.2874A>C (p.Glu958Asp) rs140164220 0.00046
NM_025137.4(SPG11):c.1775C>T (p.Ser592Leu) rs373796566 0.00029
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn) rs145132275 0.00026
NM_025137.4(SPG11):c.6284T>C (p.Leu2095Ser) rs185665930 0.00026
NM_025137.4(SPG11):c.491C>T (p.Ser164Leu) rs148175530 0.00024
NM_025137.4(SPG11):c.6010T>G (p.Leu2004Val) rs200220848 0.00022
NM_025137.4(SPG11):c.2897G>A (p.Arg966His) rs200281262 0.00019
NM_025137.4(SPG11):c.4873C>T (p.Leu1625Phe) rs371716779 0.00017
NM_025137.4(SPG11):c.1433A>G (p.Gln478Arg) rs142428867 0.00016
NM_025137.4(SPG11):c.5315G>A (p.Arg1772His) rs150823040 0.00016
NM_025137.4(SPG11):c.6878G>A (p.Arg2293Gln) rs201721414 0.00016
NM_025137.4(SPG11):c.1121C>G (p.Ser374Cys) rs144403346 0.00015
NM_025137.4(SPG11):c.5011C>T (p.His1671Tyr) rs141011688 0.00015
NM_025137.4(SPG11):c.2318T>G (p.Val773Gly) rs182080501 0.00014
NM_025137.4(SPG11):c.2075T>C (p.Ile692Thr) rs144012151 0.00013
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys) rs138103656 0.00011
NM_025137.4(SPG11):c.5966A>G (p.Asn1989Ser) rs375896392 0.00008
NM_025137.4(SPG11):c.1939A>G (p.Ile647Val) rs375256495 0.00006
NM_025137.4(SPG11):c.2669G>A (p.Arg890His) rs376143651 0.00006
NM_025137.4(SPG11):c.5793C>G (p.Ile1931Met) rs781271890 0.00006
NM_025137.4(SPG11):c.6424G>A (p.Ala2142Thr) rs141035224 0.00006
NM_025137.4(SPG11):c.7249G>A (p.Glu2417Lys) rs371313584 0.00006
NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys) rs201082396 0.00005
NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln) rs752401008 0.00005
NM_025137.4(SPG11):c.935G>A (p.Gly312Asp) rs774273136 0.00005
NM_025137.4(SPG11):c.445A>G (p.Ile149Val) rs1482526173 0.00004
NM_025137.4(SPG11):c.6988C>T (p.Arg2330Trp) rs775295729 0.00004
NM_025137.4(SPG11):c.7202T>C (p.Leu2401Ser) rs139812925 0.00004
NM_025137.4(SPG11):c.2577A>G (p.Gln859=) rs753130399 0.00003
NM_025137.4(SPG11):c.3292-1G>T rs201217015 0.00003
NM_025137.4(SPG11):c.3551G>T (p.Ser1184Ile) rs766403944 0.00003
NM_025137.4(SPG11):c.361A>C (p.Lys121Gln) rs778960331 0.00003
NM_025137.4(SPG11):c.4070T>C (p.Leu1357Pro) rs367550468 0.00003
NM_025137.4(SPG11):c.4972C>T (p.His1658Tyr) rs775877332 0.00003
NM_025137.4(SPG11):c.5362G>A (p.Val1788Met) rs200918991 0.00003
NM_025137.4(SPG11):c.6621C>G (p.Ile2207Met) rs758008249 0.00003
NM_025137.4(SPG11):c.2280C>T (p.Cys760=) rs567932275 0.00002
NM_025137.4(SPG11):c.2299A>G (p.Asn767Asp) rs370774571 0.00002
NM_025137.4(SPG11):c.7034C>T (p.Pro2345Leu) rs748206574 0.00002
NM_025137.4(SPG11):c.1207C>T (p.His403Tyr) rs1331463203 0.00001
NM_025137.4(SPG11):c.2717A>G (p.Gln906Arg) rs2083706533 0.00001
NM_025137.4(SPG11):c.3039-5T>G rs763224175 0.00001
NM_025137.4(SPG11):c.3265A>G (p.Met1089Val) rs766016524 0.00001
NM_025137.4(SPG11):c.3538C>A (p.Pro1180Thr) rs747910594 0.00001
NM_025137.4(SPG11):c.4002G>C (p.Arg1334Ser) rs1085307814 0.00001
NM_025137.4(SPG11):c.4742C>T (p.Thr1581Met) rs766297012 0.00001
NM_025137.4(SPG11):c.496C>G (p.Leu166Val) rs372037097 0.00001
NM_025137.4(SPG11):c.4970A>G (p.Asn1657Ser) rs376207036 0.00001
NM_025137.4(SPG11):c.5189T>G (p.Phe1730Cys) rs755382678 0.00001
NM_025137.4(SPG11):c.6017G>A (p.Cys2006Tyr) rs1179229360 0.00001
NM_025137.4(SPG11):c.6092G>A (p.Arg2031Gln) rs1365555358 0.00001
NM_025137.4(SPG11):c.6175C>T (p.Arg2059Trp) rs755438310 0.00001
NM_025137.4(SPG11):c.6526T>C (p.Phe2176Leu) rs752165478 0.00001
NM_025137.4(SPG11):c.6790C>G (p.Leu2264Val) rs1264367885 0.00001
NM_025137.4(SPG11):c.1007G>A (p.Arg336Lys) rs892937993
NM_025137.4(SPG11):c.1097T>G (p.Ile366Ser) rs2084790037
NM_025137.4(SPG11):c.1189A>T (p.Asn397Tyr) rs2084784763
NM_025137.4(SPG11):c.1225C>T (p.Pro409Ser)
NM_025137.4(SPG11):c.1292C>G (p.Ser431Cys) rs886051183
NM_025137.4(SPG11):c.1377C>T (p.Gly459=) rs768183449
NM_025137.4(SPG11):c.14A>G (p.Glu5Gly) rs911119510
NM_025137.4(SPG11):c.1571G>A (p.Gly524Glu) rs773146881
NM_025137.4(SPG11):c.2078C>T (p.Ala693Val) rs1329366922
NM_025137.4(SPG11):c.2081G>T (p.Ser694Ile)
NM_025137.4(SPG11):c.2443A>G (p.Arg815Gly)
NM_025137.4(SPG11):c.251T>C (p.Phe84Ser) rs2085177672
NM_025137.4(SPG11):c.3039-10T>G rs1567163243
NM_025137.4(SPG11):c.3818A>C (p.Lys1273Thr) rs76389165
NM_025137.4(SPG11):c.3901C>A (p.Leu1301Ile) rs2140977252
NM_025137.4(SPG11):c.3980T>C (p.Ile1327Thr)
NM_025137.4(SPG11):c.4002-3T>G
NM_025137.4(SPG11):c.4436G>A (p.Gly1479Asp) rs374303102
NM_025137.4(SPG11):c.4529C>T (p.Thr1510Ile)
NM_025137.4(SPG11):c.4598G>A (p.Ser1533Asn)
NM_025137.4(SPG11):c.4804G>T (p.Val1602Leu) rs754536969
NM_025137.4(SPG11):c.5047G>A (p.Asp1683Asn)
NM_025137.4(SPG11):c.5135T>G (p.Met1712Arg) rs1555448989
NM_025137.4(SPG11):c.528T>G (p.Ile176Met)
NM_025137.4(SPG11):c.5453C>G (p.Thr1818Arg) rs2140946992
NM_025137.4(SPG11):c.5497T>G (p.Ser1833Ala) rs766375553
NM_025137.4(SPG11):c.56C>T (p.Thr19Ile) rs1555384052
NM_025137.4(SPG11):c.5710T>G (p.Tyr1904Asp) rs2082705435
NM_025137.4(SPG11):c.6305A>G (p.Asp2102Gly)
NM_025137.4(SPG11):c.6755-3C>G rs1177654504
NM_025137.4(SPG11):c.6785AAC[1] (p.Gln2263del) rs1384234762
NM_025137.4(SPG11):c.7048A>G (p.Ile2350Val) rs780550991
NM_025137.4(SPG11):c.7237A>G (p.Lys2413Glu)
NM_025137.4(SPG11):c.824G>T (p.Ser275Ile) rs769608648
NM_025137.4(SPG11):c.833A>T (p.Asn278Ile) rs75309308

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