ClinVar Miner

List of variants reported as benign for hereditary spastic paraplegia 62 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_006459.4(ERLIN1):c.871A>G (p.Ile291Val) rs2862954 0.32670
NM_006459.4(ERLIN1):c.243-18T>C rs3750707 0.10883
NM_006459.4(ERLIN1):c.369C>T (p.His123=) rs150796906 0.00224
NM_006459.4(ERLIN1):c.243-19T>G rs141220781 0.00127
NM_006459.4(ERLIN1):c.276A>G (p.Glu92=) rs139168020 0.00020
NM_006459.4(ERLIN1):c.656-20_656-18del rs548789974

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