ClinVar Miner

List of variants reported for Harel-Yoon syndrome; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal by Fulgent Genetics, Fulgent Genetics

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001170535.3(ATAD3A):c.1267-8C>G rs186268381 0.02490
NM_001170535.3(ATAD3A):c.1215-6T>C rs112869160 0.00644
NM_001170535.3(ATAD3A):c.646G>T (p.Ala216Ser) rs2767471 0.00200
NM_001170535.3(ATAD3A):c.229C>G (p.Leu77Val) rs138594222 0.00040
NM_001170535.3(ATAD3A):c.412C>T (p.Arg138Trp) rs375517057 0.00007
NM_001170535.3(ATAD3A):c.1577C>G (p.Ser526Trp) rs773606388 0.00001
NM_001170535.3(ATAD3A):c.1602C>T (p.Ala534=) rs780963309 0.00001
NM_001170535.3(ATAD3A):c.672G>A (p.Glu224=) rs776672631 0.00001
NM_001170535.3(ATAD3A):c.1072A>T (p.Lys358Ter) rs2100667492
NM_001170535.3(ATAD3A):c.750+10C>A rs569633380

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