ClinVar Miner

List of variants in gene CHAT reported as benign for congenital myasthenic syndrome 6

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP
NM_020549.4(CHAT):c.1062G>A (p.Thr354=) rs529337162
NM_020549.4(CHAT):c.1111+8G>A rs142454032
NM_020549.4(CHAT):c.1122C>T (p.Asn374=) rs61115650
NM_020549.4(CHAT):c.1123C>T (p.Arg375Trp) rs141794970
NM_020549.4(CHAT):c.1131G>A (p.Ser377=) rs115126024
NM_020549.4(CHAT):c.1197C>T (p.Ser399=) rs554276268
NM_020549.4(CHAT):c.1198G>A (p.Asp400Asn) rs8178991
NM_020549.4(CHAT):c.1372C>T (p.Leu458Phe) rs76014951
NM_020549.4(CHAT):c.1381= (p.Met461=) rs4838544
NM_020549.4(CHAT):c.1381A>G (p.Met461Val) rs4838544
NM_020549.4(CHAT):c.1391G>A (p.Ser464Asn) rs148525631
NM_020549.4(CHAT):c.141C>G (p.Asp47Glu) rs3810948
NM_020549.4(CHAT):c.1641T>C (p.His547=) rs8178992
NM_020549.4(CHAT):c.1654C>T (p.Pro552Ser) rs147079245
NM_020549.4(CHAT):c.1674C>T (p.Ser558=) rs7073028
NM_020549.4(CHAT):c.1682G>A (p.Arg561Gln) rs80097077
NM_020549.4(CHAT):c.174C>A (p.Ser58Arg) rs572002174
NM_020549.4(CHAT):c.2067C>T (p.Ile689=) rs3793801
NM_020549.4(CHAT):c.287-431G>A rs1880676
NM_020549.4(CHAT):c.327G>A (p.Thr109=) rs79914771
NM_020549.4(CHAT):c.358G>A (p.Ala120Thr) rs3810950
NM_020549.4(CHAT):c.438C>T (p.Tyr146=) rs61731734
NM_020549.4(CHAT):c.576C>T (p.Asn192=) rs150236872
NM_020549.4(CHAT):c.711C>G (p.Ser237Arg) rs78925077
NM_020549.4(CHAT):c.727C>T (p.Leu243Phe) rs8178990
NM_020549.4(CHAT):c.745C>G (p.Leu249Val) rs115510708
NM_020549.4(CHAT):c.789G>A (p.Leu263=) rs114090981
NM_020549.4(CHAT):c.896C>T (p.Pro299Leu) rs868749
NM_020549.4(CHAT):c.903T>C (p.Pro301=) rs113897064
NM_020549.4(CHAT):c.909C>T (p.His303=) rs76570508
NM_020549.5(CHAT):c.916G>A (p.Val306Ile)

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