ClinVar Miner

List of variants in gene GATA6 reported by Gharavi Laboratory, Columbia University

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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005257.6(GATA6):c.1171G>A (p.Val391Met) rs1043497891 0.00003
NM_005257.6(GATA6):c.1054G>C (p.Gly352Arg) rs1369316608
NM_005257.6(GATA6):c.1208G>T (p.Arg403Leu) rs1567995625
NM_005257.6(GATA6):c.128CCT[2] (p.Ser45del) rs1201519482
NM_005257.6(GATA6):c.1729_1743dup (p.Pro577_Thr581dup) rs1568011745

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