ClinVar Miner

List of variants studied for amyotrophic lateral sclerosis type 22

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_006000.3(TUBA4A):c.1147G>A (p.Ala383Thr) rs368743618 0.00001
NM_006000.3(TUBA4A):c.958C>T (p.Arg320Cys) rs730880025 0.00001
NM_006000.3(TUBA4A):c.959G>A (p.Arg320His) rs730880026 0.00001
NM_006000.3(TUBA4A):c.1025A>G (p.Gln342Arg)
NM_006000.3(TUBA4A):c.1220G>A (p.Trp407Ter) rs730880027
NM_006000.3(TUBA4A):c.1243G>A (p.Glu415Lys)
NM_006000.3(TUBA4A):c.433A>C (p.Thr145Pro) rs730880029
NM_006000.3(TUBA4A):c.842C>T (p.Ala281Val)

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