ClinVar Miner

List of variants in gene HEXA reported by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431 0.88741
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502 0.87885
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) rs1800430 0.03370
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03241
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_000520.6(HEXA):c.-4G>A rs766510036 0.00050
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00045
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_000520.6(HEXA):c.459+5G>A rs762060470 0.00007
NM_000520.6(HEXA):c.1487C>G (p.Ala496Gly) rs373781108 0.00003
NM_000520.6(HEXA):c.1264C>G (p.Leu422Val) rs774562271 0.00001
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys) rs121907952 0.00001
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071 0.00001
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter) rs769035623 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_000520.6(HEXA):c.884A>G (p.Asn295Ser) rs199578185 0.00001
NM_000520.6(HEXA):c.1087_1088delinsTA (p.Val363Tyr) rs2088636561
NM_000520.6(HEXA):c.1444G>T (p.Glu482Ter) rs121907952
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr) rs121907973
NM_000520.6(HEXA):c.80C>T (p.Pro27Leu) rs1344884967
NM_000520.6(HEXA):c.929_930del (p.Ser310fs) rs751248523

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