ClinVar Miner

List of variants reported as pathogenic for Congenital NAD deficiency disorder by Embryology Laboratory, Victor Chang Cardiac Research Institute

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr) rs144139747 0.00081
NM_018161.5(NADSYN1):c.395G>T (p.Trp132Leu) rs189928649 0.00016
NM_003937.3(KYNU):c.170-1G>T rs1135401744 0.00014
NM_003937.3(KYNU):c.468T>A (p.Tyr156Ter) rs758865880 0.00005
NM_003937.3(KYNU):c.1282C>T (p.Arg428Trp) rs147475752 0.00001
NM_003937.3(KYNU):c.788A>G (p.His263Arg) rs1458654786 0.00001
NM_012205.3(HAAO):c.323G>A (p.Arg108Gln) rs1363954556 0.00001
NM_012205.3(HAAO):c.483dup (p.Asp162Ter) rs527656756 0.00001
NM_018161.5(NADSYN1):c.145T>C (p.Cys49Arg) rs769220327 0.00001
NM_003937.3(KYNU):c.1045_1051del (p.Phe349fs) rs770642379
NM_003937.3(KYNU):c.489del (p.Ala164fs) rs752269711
NM_012205.3(HAAO):c.128G>A (p.Arg43Lys) rs1672558841
NM_012205.3(HAAO):c.141C>A (p.His47Gln) rs746702852
NM_012205.3(HAAO):c.301G>T (p.Gly101Trp) rs1672152382
NM_012205.3(HAAO):c.43del (p.Arg15fs) rs1558680405
NM_012205.3(HAAO):c.558G>A (p.Trp186Ter) rs1135401743
NM_018161.5(NADSYN1):c.1819del (p.Val607fs) rs1327307171
NM_018161.5(NADSYN1):c.1839C>G (p.Tyr613Ter) rs1008561025
NM_018161.5(NADSYN1):c.735T>A (p.Cys245Ter) rs1949650831

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