ClinVar Miner

List of variants in gene HEXA reported as benign

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Total variants: 19
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HGVS dbSNP
NM_000520.4(HEXA):c.745C>T (p.Arg249Trp) rs138058578
NM_000520.6(HEXA):c.*515G>A rs3087652
NM_000520.6(HEXA):c.*589T>G rs11629508
NM_000520.6(HEXA):c.-4G>A rs766510036
NM_000520.6(HEXA):c.1074-43C>G rs16956759
NM_000520.6(HEXA):c.1146+8G>A rs201453018
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) rs1800430
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431
NM_000520.6(HEXA):c.1331-46G>A rs2303448
NM_000520.6(HEXA):c.1422-237A>G rs8037749
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502
NM_000520.6(HEXA):c.1526+79A>G rs2912218
NM_000520.6(HEXA):c.672+30T>G rs117160567
NM_000520.6(HEXA):c.69C>G (p.Leu23=) rs143554538
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345
NM_000520.6(HEXA):c.806-48G>T rs73440586
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428

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