ClinVar Miner

List of variants reported as benign for amyotrophic lateral sclerosis by Genome Diagnostics Laboratory, Amsterdam University Medical Center

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_021076.4(NEFH):c.2232T>C (p.Ala744=) rs165923 0.82375
NM_021076.4(NEFH):c.2784A>G (p.Val928=) rs165625 0.80626
NM_001372574.1(ATXN2):c.-91C>T rs695872 0.61029
NM_001372574.1(ATXN2):c.-162C>G rs695871 0.60874
NM_021076.4(NEFH):c.1844C>T (p.Pro615Leu) rs5763269 0.19153
NM_021076.4(NEFH):c.2414A>C (p.Glu805Ala) rs165602 0.14527
NM_021076.4(NEFH):c.1200C>T (p.Ala400=) rs165734 0.12411
NM_021076.4(NEFH):c.1387G>A (p.Glu463Lys) rs59371099 0.06827
NM_001372574.1(ATXN2):c.289-11dup rs144235483
NM_007375.4(TARDBP):c.714+69dup rs143130606

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