ClinVar Miner

List of variants reported as benign for amyotrophic lateral sclerosis by Mendelics

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala) rs9885672 0.33924
NM_004960.4(FUS):c.*41G>A rs80301724 0.00551
NM_001097577.3(ANG):c.250A>G (p.Lys84Glu) rs17560 0.00410
NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile) rs72466496 0.00287
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu) rs534886444 0.00020
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060 0.00005
NM_004960.4(FUS):c.518_523del
NM_021076.4(NEFH):c.2232_2249del (p.746_751SPEKAK[1]) rs59890097

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