List of variants in gene CHAT reported as uncertain significance for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 31

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HGVS	dbSNP	gnomAD frequency
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.2177C>T (p.Pro726Leu)	rs79414242	0.00129
NM_020549.5(CHAT):c.665G>C (p.Arg222Pro)	rs8178989	0.00086
NM_020549.5(CHAT):c.1069G>A (p.Gly357Arg)	rs61731735	0.00082
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.580-5G>A	rs763339825	0.00006
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.1635-5C>A	rs776745899	0.00003
NM_020549.5(CHAT):c.452G>A (p.Arg151Gln)	rs202059535	0.00003
NM_020549.5(CHAT):c.1300G>A (p.Gly434Ser)	rs115964813	0.00002
NM_020549.5(CHAT):c.350G>A (p.Arg117His)	rs376641216	0.00002
NM_020549.5(CHAT):c.1147C>T (p.Arg383Cys)	rs771822812	0.00001
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.1679G>A (p.Arg560His)	rs121912819	0.00001
NM_020549.5(CHAT):c.1823C>A (p.Thr608Asn)	rs773228076	0.00001
NM_020549.5(CHAT):c.1229G>A (p.Gly410Asp)	rs1554807101
NM_020549.5(CHAT):c.2158_2159del (p.Asp720fs)	rs2132858865
NM_020549.5(CHAT):c.2171T>C (p.Leu724Pro)	rs760920908
NM_020549.5(CHAT):c.25A>G (p.Arg9Gly)	rs587780314
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.887G>A (p.Ser296Asn)	rs1554803699

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