ClinVar Miner

List of variants studied for amyotrophic lateral sclerosis type 5 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214 0.00950
NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys) rs374057859 0.00027
NM_025137.4(SPG11):c.5969A>G (p.Tyr1990Cys) rs199920965 0.00016
NM_025137.4(SPG11):c.3320G>C (p.Cys1107Ser) rs201271196 0.00009
NM_025137.4(SPG11):c.604A>G (p.Met202Val) rs201875705 0.00006
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met) rs149003934 0.00006
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter) rs140385286 0.00005
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.733_734del (p.Met245fs) rs312262720 0.00005
NM_025137.4(SPG11):c.1348dup (p.Ile450fs) rs312262725 0.00004
NM_025137.4(SPG11):c.6043G>A (p.Asp2015Asn) rs771242219 0.00004
NM_025137.4(SPG11):c.2003A>G (p.Tyr668Cys) rs764762491 0.00003
NM_025137.4(SPG11):c.2377G>A (p.Val793Met) rs546601155 0.00003
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter) rs141848292 0.00002
NM_025137.4(SPG11):c.3663C>A (p.Ile1221=) rs1388337783 0.00001
NM_025137.4(SPG11):c.3687_3688insC (p.Ile1230fs) rs1459810136 0.00001
NM_025137.4(SPG11):c.4702G>A (p.Ala1568Thr) rs767343843 0.00001
NM_025137.4(SPG11):c.5986dup (p.Cys1996fs) rs312262775 0.00001
NM_025137.4(SPG11):c.6458G>T (p.Ser2153Ile) rs543344637 0.00001
NM_025137.4(SPG11):c.7326del (p.Gly2443fs) rs751228307 0.00001
NM_025137.4(SPG11):c.1347_1348inv (p.Ile450Val)
NM_025137.4(SPG11):c.2445-32dup rs374899647
NM_025137.4(SPG11):c.4462_4463del (p.Val1488fs) rs587777921
NM_025137.4(SPG11):c.4804G>A (p.Val1602Met) rs754536969
NM_025137.4(SPG11):c.5866_5866+4del rs771346977
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs) rs312262781
NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs) rs312262782
NM_025137.4(SPG11):c.6754+2_6754+3dup rs759090170

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