ClinVar Miner

List of variants in gene HEXA reported as benign by GeneDx

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000520.6(HEXA):c.1422-237A>G rs8037749 0.88873
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431 0.87890
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502 0.87885
NR_027262.1(HEXA-AS1):n.86T>C rs4777505 0.81225
NM_000520.6(HEXA):c.1146+266A>G rs12592727 0.12857
NM_000520.6(HEXA):c.1074-94C>A rs2303449 0.12787
NM_000520.6(HEXA):c.986+275G>A rs16956771 0.12785
NM_000520.6(HEXA):c.1074-127A>T rs2303450 0.12778
NM_000520.6(HEXA):c.1526+188G>A rs10468051 0.11170
NM_000520.6(HEXA):c.347-69A>C rs10220917 0.07567
NM_000520.6(HEXA):c.986+68G>A rs28471053 0.06120
NM_000520.6(HEXA):c.806-48G>T rs73440586 0.06050
NM_000520.6(HEXA):c.1074-43C>G rs16956759 0.06040
NM_000520.6(HEXA):c.570+57G>A rs12440768 0.04919
NM_000520.6(HEXA):c.987-88G>A rs74949863 0.04910
NM_000520.6(HEXA):c.1331-46G>A rs2303448 0.04341
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) rs1800430 0.03370
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03048
NM_000520.6(HEXA):c.253+130C>A rs16956866 0.02833
NM_000520.6(HEXA):c.1421+185A>G rs57733983 0.02036
NM_000520.6(HEXA):c.1526+79A>G rs2912218 0.01854
NM_000520.6(HEXA):c.673-13T>C rs75211071 0.00438
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345 0.00412
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970 0.00190
NM_000520.6(HEXA):c.-4G>A rs766510036 0.00050
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038 0.00038
NM_000520.6(HEXA):c.1146+330G>C rs12910617
NM_000520.6(HEXA):c.1422-69G>A rs2288259

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