ClinVar Miner

List of variants reported as uncertain significance 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: 40
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HGVS dbSNP gnomAD frequency
NM_006459.4(ERLIN1):c.195+3G>A rs201208911 0.00040
NM_006459.4(ERLIN1):c.67G>A (p.Ala23Thr) rs140620682 0.00036
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.1037G>A (p.Ser346Asn) rs369725736 0.00003
NM_006459.4(ERLIN1):c.773C>T (p.Ala258Val) rs763392279 0.00003
NM_006459.4(ERLIN1):c.856A>C (p.Lys286Gln) rs774243081 0.00003
NM_006459.4(ERLIN1):c.688C>T (p.Arg230Trp) rs774701385 0.00002
NM_006459.4(ERLIN1):c.1015A>G (p.Asn339Asp) rs199928340 0.00001
NM_006459.4(ERLIN1):c.178A>G (p.Thr60Ala) rs1040330782 0.00001
NM_006459.4(ERLIN1):c.317T>C (p.Val106Ala) rs766334565 0.00001
NM_006459.4(ERLIN1):c.451A>G (p.Lys151Glu) rs1212995006 0.00001
NM_006459.4(ERLIN1):c.496A>G (p.Thr166Ala) rs1347300132 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
NC_000010.10:g.(?_101915882)_(101927183_?)del
NM_006459.4(ERLIN1):c.1036A>C (p.Ser346Arg)
NM_006459.4(ERLIN1):c.160A>G (p.Met54Val)
NM_006459.4(ERLIN1):c.162G>T (p.Met54Ile) rs1844798250
NM_006459.4(ERLIN1):c.179C>T (p.Thr60Met)
NM_006459.4(ERLIN1):c.242+3A>C
NM_006459.4(ERLIN1):c.269G>A (p.Arg90Gln)
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.471C>G (p.Asp157Glu) rs1844166742
NM_006459.4(ERLIN1):c.563+1G>A
NM_006459.4(ERLIN1):c.609G>C (p.Lys203Asn)
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.668T>C (p.Ile223Thr)
NM_006459.4(ERLIN1):c.713A>T (p.Lys238Ile)
NM_006459.4(ERLIN1):c.741C>G (p.Ile247Met)
NM_006459.4(ERLIN1):c.760G>T (p.Ala254Ser)
NM_006459.4(ERLIN1):c.799G>A (p.Ala267Thr) rs1244277642
NM_006459.4(ERLIN1):c.79A>G (p.Lys27Glu) rs1199328865
NM_006459.4(ERLIN1):c.874G>T (p.Ala292Ser)
NM_006459.4(ERLIN1):c.907A>G (p.Ile303Val)

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