ClinVar Miner

List of variants studied for Dentatorubral-pallidoluysian atrophy; Congenital hypotonia, epilepsy, developmental delay, and digital anomalies

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001940.4(ATN1):c.1467G>A (p.Gln489=) rs782253884 0.01283
NM_001940.4(ATN1):c.1464GCA[14] (p.Gln502del) rs60216939
NM_001940.4(ATN1):c.1464GCA[16] (p.Gln502dup) rs60216939
NM_001940.4(ATN1):c.1464GCA[20] (p.Gln498_Gln502dup)
NM_001940.4(ATN1):c.2782C>T (p.Pro928Ser)

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