ClinVar Miner

List of variants reported as uncertain significance for arrhythmogenic right ventricular dysplasia 9 by Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen

Included ClinVar conditions (1):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783 0.00016
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile) rs397517270 0.00010
NM_001005242.3(PKP2):c.1138G>A (p.Glu380Lys) rs878898365 0.00001
NM_001005242.3(PKP2):c.2194T>C (p.Ser732Pro) rs1114167346 0.00001
NM_001267550.2(TTN):c.68827G>T (p.Ala22943Ser) rs878941853 0.00001
NM_000257.4(MYH7):c.3715A>G (p.Ile1239Val) rs1114167342
NM_001035.3(RYR2):c.4069G>A (p.Asp1357Asn) rs193922626
NM_001927.4(DES):c.1315G>A (p.Glu439Lys) rs1114167347
NM_002471.4(MYH6):c.3607dup (p.Ala1203fs) rs1114167343
NM_024422.6(DSC2):c.2581G>A (p.Gly861Arg) rs1114167344
NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del) rs397517846

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