ClinVar Miner

List of variants in gene CHAT reported as uncertain significance by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Total variants: 17
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HGVS dbSNP
NM_020549.4(CHAT):c.1087G>A (p.Glu363Lys) rs75262191
NM_020549.4(CHAT):c.1228G>A (p.Gly410Ser) rs749948399
NM_020549.4(CHAT):c.1248C>T (p.Asn416=) rs116071049
NM_020549.4(CHAT):c.1511G>A (p.Arg504Gln) rs200335347
NM_020549.4(CHAT):c.1668C>T (p.Ser556=) rs55702495
NM_020549.4(CHAT):c.1771G>A (p.Val591Met) rs201485243
NM_020549.4(CHAT):c.1823C>A (p.Thr608Asn) rs773228076
NM_020549.4(CHAT):c.1883G>A (p.Arg628Gln) rs114545628
NM_020549.4(CHAT):c.2171T>C (p.Leu724Pro) rs760920908
NM_020549.4(CHAT):c.2222G>A (p.Arg741Lys) rs114719193
NM_020549.4(CHAT):c.284C>A (p.Ala95Glu) rs977117524
NM_020549.4(CHAT):c.406G>A (p.Val136Met) rs201479289
NM_020549.4(CHAT):c.867G>A (p.Thr289=) rs574542737
NM_020549.4(CHAT):c.909C>T (p.His303=) rs76570508
NM_020549.5(CHAT):c.59_60del (p.Glu20fs) rs531450737
NM_020549.5(CHAT):c.833CCT[1] (p.Ser279del) rs560648873
NM_020984.3(CHAT):c.-68-2186G>A rs1423177834

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