ClinVar Miner

List of variants studied for amyotrophic lateral sclerosis type 1 by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_021076.4(NEFH):c.1200C>T (p.Ala400=) rs165734
NM_021076.4(NEFH):c.1387G>A (p.Glu463Lys) rs59371099
NM_021076.4(NEFH):c.1740C>T (p.Ser580=) rs114263951
NM_021076.4(NEFH):c.1844C>T (p.Pro615Leu) rs5763269
NM_021076.4(NEFH):c.1947_1964dup (p.646_651AKSPEK[3]) rs147489453
NM_021076.4(NEFH):c.2232T>C (p.Ala744=) rs165923
NM_021076.4(NEFH):c.2414A>C (p.Glu805Ala) rs165602
NM_021076.4(NEFH):c.2784A>G (p.Val928=) rs165625

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