ClinVar Miner

List of variants studied for hereditary spastic paraplegia by GenomeConnect - Invitae Patient Insights Network

Included ClinVar conditions (140):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp) rs145643238 0.00103
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe) rs55708915 0.00091
NM_001776.6(ENTPD1):c.25G>A (p.Val9Met) rs150772804 0.00059
NM_015346.4(ZFYVE26):c.5401G>A (p.Ala1801Thr) rs138965635 0.00056
NM_025137.4(SPG11):c.328A>G (p.Asn110Asp) rs139498464 0.00011
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys) rs138103656 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_025137.4(SPG11):c.5599G>A (p.Glu1867Lys) rs372419484 0.00008
NM_015915.5(ATL1):c.1556G>A (p.Ser519Asn) rs751861796 0.00006
NM_001166114.2(PNPLA6):c.4003C>T (p.Pro1335Ser) rs151264767 0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_001166114.2(PNPLA6):c.1430C>T (p.Ser477Leu) rs140929996 0.00004
NM_015087.5(SPART):c.560A>G (p.Tyr187Cys) rs375284717 0.00004
NM_025137.4(SPG11):c.5696G>A (p.Arg1899Gln) rs768303307 0.00002
NM_001478.5(B4GALNT1):c.1088C>G (p.Ala363Gly) rs1344371363 0.00001
NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter) rs372981030 0.00001
NM_003119.4(SPG7):c.759-2A>G rs770299071 0.00001
NM_025137.4(SPG11):c.2612dup (p.Ser871fs) rs750101275 0.00001
NM_002860.4(ALDH18A1):c.1078+5A>G rs2139591190
NM_004820.5(CYP7B1):c.1346G>A (p.Cys449Tyr) rs761060634
NM_004820.5(CYP7B1):c.961G>A (p.Glu321Lys) rs866340497
NM_014846.4(WASHC5):c.1883A>G (p.Gln628Arg) rs1816420898
NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter) rs786204126
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_020435.4(GJC2):c.436_462del (p.Pro146_Glu154del) rs779077705
NM_025137.4(SPG11):c.4402C>G (p.Pro1468Ala) rs2083030697
NM_025137.4(SPG11):c.4432C>T (p.Gln1478Ter) rs2140971559
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs) rs312262776
NM_025137.4(SPG11):c.5990T>A (p.Leu1997Gln) rs879367729
NM_025137.4(SPG11):c.7324G>C (p.Ala2442Pro) rs765644977

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