ClinVar Miner

List of variants reported as likely benign for hereditary spastic paraplegia 53 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_152415.3(VPS37A):c.99C>A (p.Ile33=) rs373895020 0.00022
NM_152415.3(VPS37A):c.918G>A (p.Gln306=) rs370931373 0.00016
NM_152415.3(VPS37A):c.416+17T>C rs375167006 0.00014
NM_152415.3(VPS37A):c.297C>G (p.Thr99=) rs373508118 0.00009
NM_152415.3(VPS37A):c.96G>C (p.Leu32=) rs199577037 0.00007
NM_152415.3(VPS37A):c.1192T>C (p.Ter398Gln) rs561258962 0.00005
NM_152415.3(VPS37A):c.576C>T (p.Ala192=) rs371205699 0.00005
NM_152415.3(VPS37A):c.420A>G (p.Leu140=) rs752387958 0.00004
NM_152415.3(VPS37A):c.901-9C>G rs368005823 0.00004
NM_152415.3(VPS37A):c.162G>A (p.Leu54=) rs753795332 0.00002
NM_152415.3(VPS37A):c.303A>G (p.Pro101=) rs759450791 0.00001
NM_152415.3(VPS37A):c.642+10G>A rs531893337 0.00001
NM_152415.3(VPS37A):c.642+9C>T rs1320293854 0.00001
NM_152415.3(VPS37A):c.643-19A>C rs1253480939 0.00001
NM_152415.3(VPS37A):c.1113+13C>T
NM_152415.3(VPS37A):c.1114-18C>T
NM_152415.3(VPS37A):c.1114-5T>C
NM_152415.3(VPS37A):c.1158G>A (p.Ala386=)
NM_152415.3(VPS37A):c.125+11_125+15del
NM_152415.3(VPS37A):c.125+15C>T
NM_152415.3(VPS37A):c.126-14A>C
NM_152415.3(VPS37A):c.126-16A>C
NM_152415.3(VPS37A):c.157A>C (p.Arg53=)
NM_152415.3(VPS37A):c.159A>G (p.Arg53=)
NM_152415.3(VPS37A):c.201-10C>T
NM_152415.3(VPS37A):c.261A>G (p.Arg87=)
NM_152415.3(VPS37A):c.315+11G>A
NM_152415.3(VPS37A):c.316-19C>T
NM_152415.3(VPS37A):c.417-20T>C
NM_152415.3(VPS37A):c.417-8C>T
NM_152415.3(VPS37A):c.417-9T>C
NM_152415.3(VPS37A):c.438G>A (p.Gly146=)
NM_152415.3(VPS37A):c.446C>T (p.Pro149Leu) rs560097044
NM_152415.3(VPS37A):c.600A>T (p.Ser200=)
NM_152415.3(VPS37A):c.606G>T (p.Leu202=) rs1814370834
NM_152415.3(VPS37A):c.642+19C>G
NM_152415.3(VPS37A):c.643-11C>T
NM_152415.3(VPS37A):c.660T>C (p.Phe220=)
NM_152415.3(VPS37A):c.699A>G (p.Glu233=)
NM_152415.3(VPS37A):c.702C>T (p.Leu234=)
NM_152415.3(VPS37A):c.72C>T (p.Ser24=) rs977660903
NM_152415.3(VPS37A):c.75C>G (p.Leu25=)
NM_152415.3(VPS37A):c.777G>A (p.Leu259=)
NM_152415.3(VPS37A):c.801C>T (p.Thr267=)
NM_152415.3(VPS37A):c.841+12C>T
NM_152415.3(VPS37A):c.841+16C>T
NM_152415.3(VPS37A):c.841+19G>T
NM_152415.3(VPS37A):c.852C>A (p.Leu284=)
NM_152415.3(VPS37A):c.882A>G (p.Arg294=)
NM_152415.3(VPS37A):c.901-18T>C
NM_152415.3(VPS37A):c.912T>C (p.Leu304=)
NM_152415.3(VPS37A):c.915A>G (p.Thr305=)
NM_152415.3(VPS37A):c.975T>C (p.Cys325=)

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