List of variants in gene TGM1 reported as pathogenic by GeneDx

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: 38

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HGVS	dbSNP	gnomAD frequency
NM_000359.3(TGM1):c.919C>G (p.Arg307Gly)	rs121918731	0.00029
NM_000359.3(TGM1):c.877-2A>G	rs142634031	0.00027
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu)	rs143473912	0.00021
NM_000359.3(TGM1):c.1135G>C (p.Val379Leu)	rs121918720	0.00011
NM_000359.3(TGM1):c.427C>T (p.Arg143Cys)	rs531650682	0.00009
NM_000359.3(TGM1):c.377G>A (p.Arg126His)	rs200491579	0.00004
NM_000359.3(TGM1):c.876+2T>C	rs151054393	0.00004
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln)	rs121918717	0.00003
NM_000359.3(TGM1):c.1223_1227del (p.Asp408fs)	rs398122905	0.00002
NM_000359.3(TGM1):c.160C>T (p.Arg54Ter)	rs140000324	0.00002
NM_000359.3(TGM1):c.232C>T (p.Arg78Ter)	rs760429286	0.00002
NM_000359.3(TGM1):c.832G>A (p.Gly278Arg)	rs121918725	0.00002
NM_000359.3(TGM1):c.857G>A (p.Arg286Gln)	rs121918727	0.00002
NM_000359.3(TGM1):c.967C>T (p.Arg323Trp)	rs771820315	0.00002
NM_000359.3(TGM1):c.1042C>T (p.Arg348Ter)	rs1296165092	0.00001
NM_000359.3(TGM1):c.1094A>G (p.Tyr365Cys)	rs756732717	0.00001
NM_000359.3(TGM1):c.1186C>T (p.Arg396Cys)	rs543521135	0.00001
NM_000359.3(TGM1):c.1417G>A (p.Gly473Ser)	rs904122716	0.00001
NM_000359.3(TGM1):c.1552del (p.Val518fs)	rs1294460452	0.00001
NM_000359.3(TGM1):c.184G>T (p.Gly62Ter)	rs886041950	0.00001
NM_000359.3(TGM1):c.379C>T (p.Arg127Ter)	rs886041250	0.00001
NM_000359.3(TGM1):c.401A>G (p.Tyr134Cys)	rs147916609	0.00001
NM_000359.3(TGM1):c.788G>A (p.Trp263Ter)	rs367699137	0.00001
NM_000359.3(TGM1):c.790C>T (p.Arg264Trp)	rs201868387	0.00001
NM_000359.3(TGM1):c.872G>A (p.Gly291Asp)	rs780990272	0.00001
NM_000359.3(TGM1):c.1054C>G (p.Pro352Ala)	rs1594571148
NM_000359.3(TGM1):c.1082T>C (p.Ile361Thr)	rs1057517837
NM_000359.3(TGM1):c.1166G>A (p.Arg389His)	rs121918723
NM_000359.3(TGM1):c.1264A>T (p.Lys422Ter)	rs563305936
NM_000359.3(TGM1):c.132G>A (p.Trp44Ter)	rs886039654
NM_000359.3(TGM1):c.1437dup (p.Ile480fs)	rs1594568541
NM_000359.3(TGM1):c.2090T>G (p.Leu697Ter)	rs747781875
NM_000359.3(TGM1):c.398_407dup (p.Tyr136Ter)	rs1057517836
NM_000359.3(TGM1):c.427C>G (p.Arg143Gly)	rs531650682
NM_000359.3(TGM1):c.586C>T (p.Gln196Ter)	rs1566380103
NM_000359.3(TGM1):c.802del (p.Val268fs)	rs1322979131
NM_000359.3(TGM1):c.882_888del (p.Asp294fs)	rs1594571770
NM_000359.3(TGM1):c.944G>A (p.Arg315His)	rs143473912

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