ClinVar Miner

List of variants in gene CHAT reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_020549.5(CHAT):c.-10T>G rs7923716 0.97663
NM_020549.5(CHAT):c.1641T>C (p.His547=) rs8178992 0.82309
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr) rs3810950 0.17408
NM_020549.5(CHAT):c.141C>G (p.Asp47Glu) rs3810948 0.02150
NM_020549.5(CHAT):c.-17G>A rs77152496 0.01739
NM_020549.5(CHAT):c.2067C>T (p.Ile689=) rs3793801 0.01009
NM_020549.5(CHAT):c.1372C>T (p.Leu458Phe) rs76014951 0.00391
NM_020549.5(CHAT):c.1135G>C (p.Asp379His) rs115212829 0.00296
NM_020549.5(CHAT):c.438C>T (p.Tyr146=) rs61731734 0.00210
NM_020549.5(CHAT):c.1248C>T (p.Asn416=) rs116071049 0.00187
NM_020549.5(CHAT):c.909C>T (p.His303=) rs76570508 0.00136
NM_020549.5(CHAT):c.327G>A (p.Thr109=) rs79914771 0.00060
NM_020549.5(CHAT):c.1883G>A (p.Arg628Gln) rs114545628 0.00037
NM_020549.5(CHAT):c.1087G>A (p.Glu363Lys) rs75262191 0.00036
NM_020549.5(CHAT):c.2222G>A (p.Arg741Lys) rs114719193 0.00034
NM_020549.5(CHAT):c.1511G>A (p.Arg504Gln) rs200335347 0.00015
NM_020549.5(CHAT):c.867G>A (p.Thr289=) rs574542737 0.00012
NM_020549.5(CHAT):c.406G>A (p.Val136Met) rs201479289 0.00011
NM_020549.5(CHAT):c.284C>A (p.Ala95Glu) rs977117524 0.00010
NM_020549.5(CHAT):c.1668C>T (p.Ser556=) rs55702495 0.00004
NM_020549.5(CHAT):c.1771G>A (p.Val591Met) rs201485243 0.00004
NM_020549.5(CHAT):c.620G>A (p.Arg207His) rs764497513 0.00003
NM_020549.5(CHAT):c.1228G>A (p.Gly410Ser) rs749948399 0.00001
NM_020549.5(CHAT):c.127G>A (p.Gly43Arg) rs1423177834 0.00001
NM_020549.5(CHAT):c.1823C>A (p.Thr608Asn) rs773228076 0.00001
NM_020549.5(CHAT):c.1381G>A (p.Val461Met) rs4838544
NM_020549.5(CHAT):c.2171T>C (p.Leu724Pro) rs760920908
NM_020549.5(CHAT):c.418C>T (p.Gln140Ter) rs794727516
NM_020549.5(CHAT):c.59_60del (p.Glu20fs) rs531450737
NM_020549.5(CHAT):c.833CCT[1] (p.Ser279del) rs560648873
NM_020549.5(CHAT):c.85A>T (p.Arg29Ter) rs772025588

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