ClinVar Miner

List of variants reported as likely benign for Autosomal dominant cerebellar ataxia, deafness and narcolepsy; Hereditary sensory neuropathy-deafness-dementia syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001130823.3(DNMT1):c.2463C>T (p.Leu821=) rs61750051 0.00377
NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu) rs150999369 0.00066
NM_001130823.3(DNMT1):c.4656+9G>A rs367724672 0.00061
NM_001130823.3(DNMT1):c.1224C>T (p.Asn408=) rs199584370 0.00035
NM_001130823.3(DNMT1):c.3711C>T (p.Cys1237=) rs139909192 0.00010
NM_001130823.3(DNMT1):c.1986C>T (p.Asn662=) rs377704053 0.00007
NM_001130823.3(DNMT1):c.4773+11C>T rs777602633 0.00003
NM_001130823.3(DNMT1):c.3999C>T (p.Ala1333=) rs747144567 0.00002

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