ClinVar Miner

List of variants in gene ERLIN1 studied for Hereditary spastic paraplegia 62

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Gene type:
ClinVar version:
Total variants: 102
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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 0.00116
NM_006459.4(ERLIN1):c.114-17G>A rs201392792 0.00053
NM_006459.4(ERLIN1):c.195+3G>A rs201208911 0.00037
NM_006459.4(ERLIN1):c.67G>A (p.Ala23Thr) rs140620682 0.00034
NM_006459.4(ERLIN1):c.276A>G (p.Glu92=) rs139168020 0.00020
NM_006459.4(ERLIN1):c.668T>C (p.Ile223Thr) rs367978782 0.00012
NM_006459.4(ERLIN1):c.762C>A (p.Ala254=) rs143495333 0.00012
NM_006459.4(ERLIN1):c.430+4A>T rs377363754 0.00011
NM_006459.4(ERLIN1):c.728G>A (p.Arg243His) rs781383034 0.00009
NM_006459.4(ERLIN1):c.878C>A (p.Ser293Tyr) rs755659573 0.00009
NM_006459.4(ERLIN1):c.713A>T (p.Lys238Ile) rs374110373 0.00008
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.760G>T (p.Ala254Ser) rs752175424 0.00004
NM_006459.4(ERLIN1):c.1015A>G (p.Asn339Asp) rs199928340 0.00003
NM_006459.4(ERLIN1):c.1018G>A (p.Val340Ile) rs373292585 0.00003
NM_006459.4(ERLIN1):c.1037G>A (p.Ser346Asn) rs369725736 0.00003
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.773C>T (p.Ala258Val) rs763392279 0.00003
NM_006459.4(ERLIN1):c.840G>A (p.Pro280=) rs747985150 0.00003
NM_006459.4(ERLIN1):c.856A>C (p.Lys286Gln) rs774243081 0.00003
NM_006459.4(ERLIN1):c.504+13C>T rs1474417603 0.00002
NM_006459.4(ERLIN1):c.688C>T (p.Arg230Trp) rs774701385 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.160A>G (p.Met54Val) rs769618226 0.00001
NM_006459.4(ERLIN1):c.177T>C (p.Thr59=) rs770027728 0.00001
NM_006459.4(ERLIN1):c.178A>G (p.Thr60Ala) rs1040330782 0.00001
NM_006459.4(ERLIN1):c.179C>T (p.Thr60Met) rs751083774 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.317T>C (p.Val106Ala) rs766334565 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.451A>G (p.Lys151Glu) rs1212995006 0.00001
NM_006459.4(ERLIN1):c.563+1G>A rs1161698243 0.00001
NM_006459.4(ERLIN1):c.609G>C (p.Lys203Asn) rs896963564 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.689G>A (p.Arg230Gln) rs943655200 0.00001
NM_006459.4(ERLIN1):c.745+5A>G rs1173306064 0.00001
NM_006459.4(ERLIN1):c.763C>T (p.Arg255Ter) rs876657413 0.00001
NM_006459.4(ERLIN1):c.76C>G (p.His26Asp) rs370785461 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.799G>A (p.Ala267Thr) rs1244277642 0.00001
NM_006459.4(ERLIN1):c.813C>T (p.Ala271=) rs747050921 0.00001
NC_000010.10:g.(?_101915882)_(101927183_?)del
NM_006459.4(ERLIN1):c.1026A>G (p.Gln342=) rs373603837
NM_006459.4(ERLIN1):c.1036A>C (p.Ser346Arg) rs2492747068
NM_006459.4(ERLIN1):c.113+16A>G rs2492972424
NM_006459.4(ERLIN1):c.149G>T (p.Gly50Val) rs876661322
NM_006459.4(ERLIN1):c.162G>T (p.Met54Ile) rs1844798250
NM_006459.4(ERLIN1):c.196-1G>A rs2492926235
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.242+3A>C rs2492925630
NM_006459.4(ERLIN1):c.243-5T>C rs2492918072
NM_006459.4(ERLIN1):c.269G>A (p.Arg90Gln) rs779963349
NM_006459.4(ERLIN1):c.269G>T (p.Arg90Leu) rs779963349
NM_006459.4(ERLIN1):c.284A>G (p.Asn95Ser) rs2134169468
NM_006459.4(ERLIN1):c.304+2T>C
NM_006459.4(ERLIN1):c.430+15T>C rs2492901723
NM_006459.4(ERLIN1):c.430+3_430+6del rs2134163259
NM_006459.4(ERLIN1):c.431-13G>C rs2492891282
NM_006459.4(ERLIN1):c.471C>G (p.Asp157Glu) rs1844166742
NM_006459.4(ERLIN1):c.480C>A (p.Leu160=) rs938582097
NM_006459.4(ERLIN1):c.496A>G (p.Thr166Ala) rs1347300132
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.610G>A (p.Val204Ile) rs1589525631
NM_006459.4(ERLIN1):c.653T>C (p.Ile218Thr) rs1363645775
NM_006459.4(ERLIN1):c.72C>T (p.Ser24=)
NM_006459.4(ERLIN1):c.741C>G (p.Ile247Met) rs543960752
NM_006459.4(ERLIN1):c.745+18G>A rs2492776901
NM_006459.4(ERLIN1):c.746-9A>G rs2492767345
NM_006459.4(ERLIN1):c.79A>G (p.Lys27Glu) rs1199328865
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=)
NM_006459.4(ERLIN1):c.874G>T (p.Ala292Ser) rs779695614
NM_006459.4(ERLIN1):c.907A>G (p.Ile303Val) rs1266929438

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