ClinVar Miner

List of variants in gene GATA6 studied for Monogenic diabetes

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005257.6(GATA6):c.851C>G (p.Ala284Gly) rs185325359 0.02672
NM_005257.6(GATA6):c.43G>C (p.Gly15Arg) rs116262672 0.02238
NM_005257.6(GATA6):c.1375G>A (p.Ala459Thr) rs151176879 0.00091
NM_005257.6(GATA6):c.533C>T (p.Ala178Val) rs387906815 0.00087
NM_005257.6(GATA6):c.592C>G (p.Leu198Val) rs387906814 0.00068
NM_005257.6(GATA6):c.1723G>C (p.Ala575Pro) rs149569288 0.00039
NM_005257.6(GATA6):c.352C>T (p.Leu118Phe) rs368297251 0.00032
NM_005257.6(GATA6):c.172A>G (p.Ser58Gly) rs924843423

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