ClinVar Miner

List of variants in gene ERLIN1 reported as likely benign for Hereditary spastic paraplegia 62

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_006459.4(ERLIN1):c.114-17G>A rs201392792 0.00053
NM_006459.4(ERLIN1):c.762C>A (p.Ala254=) rs143495333 0.00012
NM_006459.4(ERLIN1):c.966A>G (p.Gly322=) rs377025416 0.00006
NM_006459.4(ERLIN1):c.113+14G>T rs201971582 0.00005
NM_006459.4(ERLIN1):c.588T>C (p.Leu196=) rs142222778 0.00005
NM_006459.4(ERLIN1):c.195+11C>G rs769811237 0.00004
NM_006459.4(ERLIN1):c.315C>T (p.Ile105=) rs373926474 0.00004
NM_006459.4(ERLIN1):c.655+17G>A rs368260180 0.00004
NM_006459.4(ERLIN1):c.430+16C>G rs1240077501 0.00003
NM_006459.4(ERLIN1):c.430+20T>C rs371684308 0.00003
NM_006459.4(ERLIN1):c.741C>T (p.Ile247=) rs543960752 0.00003
NM_006459.4(ERLIN1):c.840G>A (p.Pro280=) rs747985150 0.00003
NM_006459.4(ERLIN1):c.504+13C>T rs1474417603 0.00002
NM_006459.4(ERLIN1):c.745+10G>C rs1371863956 0.00002
NM_006459.4(ERLIN1):c.113+20A>G rs1844912706 0.00001
NM_006459.4(ERLIN1):c.114-16A>G rs370796510 0.00001
NM_006459.4(ERLIN1):c.114-19T>A rs370929588 0.00001
NM_006459.4(ERLIN1):c.177T>C (p.Thr59=) rs770027728 0.00001
NM_006459.4(ERLIN1):c.237A>T (p.Gly79=) rs1222931231 0.00001
NM_006459.4(ERLIN1):c.243-17T>C rs764296818 0.00001
NM_006459.4(ERLIN1):c.27G>C (p.Leu9=) rs1277051366 0.00001
NM_006459.4(ERLIN1):c.372T>C (p.His124=) rs369551020 0.00001
NM_006459.4(ERLIN1):c.450G>C (p.Leu150=) rs767470324 0.00001
NM_006459.4(ERLIN1):c.669T>C (p.Ile223=) rs148601296 0.00001
NM_006459.4(ERLIN1):c.678G>C (p.Val226=) rs762266742 0.00001
NM_006459.4(ERLIN1):c.774G>A (p.Ala258=) rs775654645 0.00001
NM_006459.4(ERLIN1):c.789A>G (p.Glu263=) rs759786446 0.00001
NM_006459.4(ERLIN1):c.813C>T (p.Ala271=) rs747050921 0.00001
NM_006459.4(ERLIN1):c.1026A>G (p.Gln342=) rs373603837
NM_006459.4(ERLIN1):c.113+16A>G rs2492972424
NM_006459.4(ERLIN1):c.196-4C>G rs1421038306
NM_006459.4(ERLIN1):c.198A>G (p.Thr66=) rs2492926179
NM_006459.4(ERLIN1):c.207A>G (p.Gln69=) rs2492926032
NM_006459.4(ERLIN1):c.225T>C (p.Asn75=) rs2492925854
NM_006459.4(ERLIN1):c.242+20A>G rs1405477765
NM_006459.4(ERLIN1):c.243-5T>C rs2492918072
NM_006459.4(ERLIN1):c.430+15T>C rs2492901723
NM_006459.4(ERLIN1):c.431-13G>C rs2492891282
NM_006459.4(ERLIN1):c.480C>A (p.Leu160=) rs938582097
NM_006459.4(ERLIN1):c.504+8C>A rs1481149540
NM_006459.4(ERLIN1):c.564-20T>C rs978291160
NM_006459.4(ERLIN1):c.564-20_564-18del rs2134127478
NM_006459.4(ERLIN1):c.60G>C (p.Leu20=) rs2492973377
NM_006459.4(ERLIN1):c.72C>T (p.Ser24=)
NM_006459.4(ERLIN1):c.745+18G>A rs2492776901
NM_006459.4(ERLIN1):c.746-9A>G rs2492767345
NM_006459.4(ERLIN1):c.810T>C (p.Tyr270=) rs771172606
NM_006459.4(ERLIN1):c.816C>T (p.Thr272=)
NM_006459.4(ERLIN1):c.825+8G>A rs777820737
NM_006459.4(ERLIN1):c.826-10T>C
NM_006459.4(ERLIN1):c.826-7del rs781032219
NM_006459.4(ERLIN1):c.855C>G (p.Leu285=)

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