ClinVar Miner

List of variants in gene GATA5 reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_080473.5(GATA5):c.477C>G (p.Phe159Leu) rs112433432 0.00088
NM_080473.5(GATA5):c.83C>T (p.Ala28Val) rs112701160 0.00038
NM_080473.5(GATA5):c.1088A>G (p.Lys363Arg) rs140317494 0.00026
NM_080473.5(GATA5):c.1159C>T (p.Arg387Cys) rs145205240 0.00021
NM_080473.5(GATA5):c.1072G>A (p.Gly358Ser) rs146484782 0.00018
NM_080473.5(GATA5):c.932C>T (p.Ser311Leu) rs150122400 0.00015
NM_080473.5(GATA5):c.130T>C (p.Ser44Pro) rs781869793 0.00011
NM_080473.5(GATA5):c.710G>A (p.Arg237His) rs375382459 0.00010
NM_080473.5(GATA5):c.242A>C (p.His81Pro) rs1459727785 0.00007
NM_080473.5(GATA5):c.395G>A (p.Arg132Gln) rs782352129 0.00006
NM_080473.5(GATA5):c.181C>T (p.Arg61Cys) rs782403666 0.00005
NM_080473.5(GATA5):c.472C>T (p.Pro158Ser) rs782221467 0.00005
NM_080473.5(GATA5):c.704C>T (p.Ser235Leu) rs112698446 0.00004
NM_080473.5(GATA5):c.104C>T (p.Pro35Leu) rs730880111 0.00003
NM_080473.5(GATA5):c.1160G>A (p.Arg387His) rs145330430 0.00003
NM_080473.5(GATA5):c.605G>A (p.Arg202Gln) rs782614097 0.00003
NM_080473.5(GATA5):c.914G>A (p.Gly305Glu) rs376756613 0.00003
NM_080473.5(GATA5):c.1178C>T (p.Ala393Val) rs782198035 0.00002
NM_080473.5(GATA5):c.1124C>G (p.Ala375Gly) rs782645578 0.00001
NM_080473.5(GATA5):c.308G>A (p.Gly103Asp) rs781841004 0.00001
NM_080473.5(GATA5):c.547C>T (p.Pro183Ser) rs1398410086 0.00001
NM_080473.5(GATA5):c.695G>A (p.Arg232His) rs753656900 0.00001
NM_080473.5(GATA5):c.721C>T (p.Leu241Phe) rs781965965 0.00001
NM_080473.5(GATA5):c.763C>T (p.Arg255Trp) rs919823669 0.00001
NM_080473.5(GATA5):c.787G>A (p.Val263Met) rs782770542 0.00001
NM_080473.5(GATA5):c.1115C>G (p.Pro372Arg) rs1402045595
NM_080473.5(GATA5):c.1117T>A (p.Ser373Thr) rs2146479405
NM_080473.5(GATA5):c.1121C>T (p.Thr374Met) rs202078502
NM_080473.5(GATA5):c.1127_1128delinsGG (p.Pro376Arg) rs2146479361
NM_080473.5(GATA5):c.1131C>A (p.Ser377Arg) rs781791817
NM_080473.5(GATA5):c.1149G>C (p.Arg383Ser) rs148724629
NM_080473.5(GATA5):c.115G>T (p.Val39Phe)
NM_080473.5(GATA5):c.122C>T (p.Ser41Leu) rs1270199168
NM_080473.5(GATA5):c.188G>C (p.Gly63Ala) rs1264711333
NM_080473.5(GATA5):c.25_26delinsAG (p.Ala9Arg)
NM_080473.5(GATA5):c.295C>T (p.Pro99Ser)
NM_080473.5(GATA5):c.331C>G (p.Arg111Gly)
NM_080473.5(GATA5):c.427C>G (p.Pro143Ala) rs1432686324
NM_080473.5(GATA5):c.430G>T (p.Ala144Ser) rs2516446635
NM_080473.5(GATA5):c.56C>T (p.Ser19Leu)
NM_080473.5(GATA5):c.657G>T (p.Met219Ile) rs2146488257
NM_080473.5(GATA5):c.682C>T (p.Arg228Trp) rs6061554
NM_080473.5(GATA5):c.701C>T (p.Ser234Phe)
NM_080473.5(GATA5):c.712C>T (p.Arg238Cys) rs1085307586
NM_080473.5(GATA5):c.74C>T (p.Ala25Val)
NM_080473.5(GATA5):c.802_804dup (p.Gly268_Leu269insGly) rs1365111454
NM_080473.5(GATA5):c.868C>T (p.Arg290Trp) rs1555896032
NM_080473.5(GATA5):c.875G>T (p.Arg292Leu)
NM_080473.5(GATA5):c.920C>T (p.Thr307Ile)
NM_080473.5(GATA5):c.964A>G (p.Ser322Gly) rs2516436841

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