ClinVar Miner

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

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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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.42G>A (p.Gln14=) rs4098854 0.75596
NM_001372574.1(ATXN2):c.-91C>T rs695872 0.61029
NM_001372574.1(ATXN2):c.-162C>G rs695871 0.60874
NM_001372574.1(ATXN2):c.3043-12G>A rs2073950 0.19844
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_001372574.1(ATXN2):c.57A>G (p.Gln19=) rs76696028 0.13779
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_021076.4(NEFH):c.1740C>T (p.Ser580=) rs114263951 0.00755
NM_007375.4(TARDBP):c.198T>C (p.Ala66=) rs61730366 0.00292
NM_001372574.1(ATXN2):c.289-11del rs144235483
NM_001372574.1(ATXN2):c.289-11dup rs144235483
NM_001372574.1(ATXN2):c.59AGC[8] (p.Gln28del) rs10560189
NM_007375.4(TARDBP):c.714+69dup rs143130606
NM_021076.4(NEFH):c.1947_1964dup (p.646_651AKSPEK[3]) rs147489453

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