ClinVar Miner

List of variants reported as benign for amyotrophic lateral sclerosis type 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000454.4(SOD1):c.73-108T>A rs16988404
NM_004082.4(DCTN1):c.1484G>A (p.Arg495Gln) rs17721059
NM_004082.4(DCTN1):c.1605A>G (p.Thr535=) rs13429423
NM_004082.4(DCTN1):c.2448A>G (p.Ala816=) rs1130484
NM_004082.4(DCTN1):c.3746C>T (p.Thr1249Ile) rs72466496
NM_004082.4(DCTN1):c.859C>A (p.Leu287Met) rs13420401
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.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.2232_2249del (p.746_751SPEKAK[1]) rs59890097
NM_021076.4(NEFH):c.2414A>C (p.Glu805Ala) rs165602
NM_021076.4(NEFH):c.2784A>G (p.Val928=) rs165625

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