List of variants studied for amyotrophic lateral sclerosis by Centogene AG - the Rare Disease Company

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		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)	rs104893941	0.00129
NM_005235.3(ERBB4):c.2443A>G (p.Ile815Val)	rs778047462	0.00001
NM_005235.3(ERBB4):c.508C>T (p.Pro170Ser)	rs1223312722	0.00001
NM_014043.4(CHMP2B):c.423G>A (p.Met141Ile)	rs202143621	0.00001
NM_000454.5(SOD1):c.377A>C (p.Asp126Ala)	rs1164911383
NM_013254.4(TBK1):c.94G>A (p.Gly32Ser)	rs1943095779
NM_014043.4(CHMP2B):c.421A>G (p.Met141Val)	rs1706285788
NM_014845.6(FIG4):c.2376+2T>G	rs756308787
NM_015046.7(SETX):c.1110G>A (p.Trp370Ter)	rs2131463657
NM_020919.4(ALS2):c.4753_4754dup (p.Ser1585fs)	rs1689584119

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