ClinVar Miner

List of variants studied for Amyotrophic lateral sclerosis type 1; Charcot-Marie-Tooth disease axonal type 2CC

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_021076.4(NEFH):c.1844C>T (p.Pro615Leu) rs5763269 0.19153
NM_021076.4(NEFH):c.1684C>G (p.Pro562Ala) rs530872313 0.00003
NM_021076.4(NEFH):c.1216C>A (p.Leu406Met)
NM_021076.4(NEFH):c.1989_2006del (p.Glu664_Pro669del) rs267607534

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