ClinVar Miner

List of variants studied for amyotrophic lateral sclerosis type 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000454.4(SOD1):c.-109A>G rs7277748 0.03982
NM_000454.5(SOD1):c.-48T>A rs142752986 0.00516
NM_000454.5(SOD1):c.*339C>T rs17880487 0.00263
NM_000454.5(SOD1):c.*2C>T rs1804447 0.00251
NM_000454.5(SOD1):c.*153T>G rs188029963 0.00203
NM_000454.4(SOD1):c.-83T>C rs377427683 0.00038
NM_000454.5(SOD1):c.423T>A (p.Ala141=) rs143100660 0.00034
NM_000454.5(SOD1):c.*317T>C rs191345676 0.00011
NM_000454.5(SOD1):c.-26A>G rs571199057 0.00009
NM_000454.5(SOD1):c.420C>T (p.Asn140=) rs1804449 0.00005
NM_000454.4(SOD1):c.-84C>G rs573544165 0.00003
NM_000454.5(SOD1):c.457G>A (p.Ala153Thr) rs747094021 0.00002
NM_000454.5(SOD1):c.66G>A (p.Glu22=) rs756458346 0.00002
NM_000454.5(SOD1):c.328G>T (p.Asp110Tyr) rs567432143 0.00001
NM_000454.4(SOD1):c.-87G>A rs139202139
NM_000454.4(SOD1):c.-87G>C rs139202139
NM_000454.4(SOD1):c.-91C>G rs568985632
NM_000454.5(SOD1):c.*198G>A rs2049623017
NM_000454.5(SOD1):c.-55C>G rs16988395
NM_000454.5(SOD1):c.-55C>T rs16988395
NM_000454.5(SOD1):c.-56T>A rs535066119
NM_000454.5(SOD1):c.331C>T (p.His111Tyr) rs2049603707
NM_000454.5(SOD1):c.75A>G (p.Glu25=) rs2049569274

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