ClinVar Miner

List of variants in gene G6PD reported as uncertain significance by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001360016.2(G6PD):c.1458-13C>G rs371772243 0.00093
NM_001360016.2(G6PD):c.1245C>T (p.Pro415=) rs147131392 0.00062
NM_001360016.2(G6PD):c.*50G>A rs201294737 0.00033
NM_001360016.2(G6PD):c.486-14C>T rs200833520 0.00020
NM_001360016.2(G6PD):c.864+17A>T rs377041776 0.00019
NM_001360016.2(G6PD):c.1051+16G>A rs782637386 0.00008
NM_001360016.2(G6PD):c.*47G>A rs398123543 0.00005
NM_001360016.2(G6PD):c.121-46G>A rs398123545 0.00005
NM_001360016.2(G6PD):c.337G>A (p.Asp113Asn) rs5030870 0.00005
NM_001360016.2(G6PD):c.865-16C>T rs199970830 0.00005
NM_001360016.2(G6PD):c.1329C>T (p.Asp443=) rs138919671 0.00004
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342 0.00003
NM_001360016.2(G6PD):c.158+13C>T rs990745079 0.00003
NM_001360016.2(G6PD):c.1457+34A>G rs398123548 0.00001
NM_001360016.2(G6PD):c.771-3C>T rs398123551 0.00001
NM_001360016.2(G6PD):c.1037A>T (p.Asn346Ile) rs398123544
NM_001360016.2(G6PD):c.1287+20C>T rs1358637530
NM_001360016.2(G6PD):c.1365-5C>T rs886044905
NM_001360016.2(G6PD):c.1398C>T (p.Thr466=) rs398123547
NM_001360016.2(G6PD):c.220C>G (p.Arg74Gly) rs781848254
NM_001360016.2(G6PD):c.305T>C (p.Phe102Ser) rs886044847
NM_001360016.2(G6PD):c.545G>C (p.Arg182Pro) rs398123549
NM_001360016.2(G6PD):c.675G>C (p.Trp225Cys) rs398123550

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