ClinVar Miner

List of variants in gene GATA5 reported as benign by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_080473.5(GATA5):c.1128A>G (p.Pro376=) rs6061550 0.53748
NM_080473.5(GATA5):c.609C>T (p.Asp203=) rs41305803 0.43273
NM_080473.5(GATA5):c.199A>C (p.Thr67Pro) rs6142775 0.15464
NM_080473.5(GATA5):c.852G>A (p.Lys284=) rs6587239
NM_080473.5(GATA5):c.981G>C (p.Ser327=) rs6061243

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