ClinVar Miner

List of variants reported as pathogenic by Embryology Laboratory,Victor Chang Cardiac Research Institute

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Total variants: 8
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NM_000192.3(TBX5):c.1221C>G (p.Tyr407Ter) rs1555223259
NM_002834.4(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_003221.4(TFAP2B):c.854G>A (p.Arg285Gln) rs80338915
NM_003937.3(KYNU):c.1045_1051del (p.Phe349fs) rs770642379
NM_003937.3(KYNU):c.170-1G>T rs1135401744
NM_003937.3(KYNU):c.468T>A (p.Tyr156Ter) rs758865880
NM_012205.3(HAAO):c.483dup (p.Asp162Ter) rs527656756
NM_012205.3(HAAO):c.558G>A (p.Trp186Ter) rs1135401743

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