List of variants in gene TGM1 reported as likely pathogenic by Counsyl

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: 35

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HGVS	dbSNP	gnomAD frequency
NM_000359.3(TGM1):c.377G>A (p.Arg126His)	rs200491579	0.00004
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln)	rs121918717	0.00003
NM_000359.3(TGM1):c.832G>A (p.Gly278Arg)	rs121918725	0.00002
NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter)	rs397514522	0.00001
NM_000359.3(TGM1):c.184G>T (p.Gly62Ter)	rs886041950	0.00001
NM_000359.3(TGM1):c.2290C>T (p.Arg764Cys)	rs201853046	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.424C>T (p.Arg142Cys)	rs121918716	0.00001
NM_000359.3(TGM1):c.428G>A (p.Arg143His)	rs121918719	0.00001
NM_000359.3(TGM1):c.579G>A (p.Trp193Ter)	rs199678720	0.00001
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser)	rs121918732	0.00001
NM_000359.3(TGM1):c.704T>A (p.Leu235Ter)	rs1199770893	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.943C>T (p.Arg315Cys)	rs397514525	0.00001
NM_000359.3(TGM1):c.1042_1043insTC (p.Arg348fs)	rs1555306172
NM_000359.3(TGM1):c.1159+1G>A	rs1220151696
NM_000359.3(TGM1):c.1159+1G>T	rs1220151696
NM_000359.3(TGM1):c.1160-2_1160-1del	rs1555306117
NM_000359.3(TGM1):c.1166G>A (p.Arg389His)	rs121918723
NM_000359.3(TGM1):c.1187G>A (p.Arg396His)	rs121918721
NM_000359.3(TGM1):c.1187G>T (p.Arg396Leu)	rs121918721
NM_000359.3(TGM1):c.1298+2T>C	rs1555306102
NM_000359.3(TGM1):c.1313G>A (p.Trp438Ter)	rs1555306089
NM_000359.3(TGM1):c.132G>A (p.Trp44Ter)	rs886039654
NM_000359.3(TGM1):c.159C>A (p.Cys53Ter)	rs201432046
NM_000359.3(TGM1):c.1649C>G (p.Ser550Ter)	rs1555305836
NM_000359.3(TGM1):c.1849_1850del (p.Val618fs)	rs1555305783
NM_000359.3(TGM1):c.1984C>T (p.Gln662Ter)	rs1555305725
NM_000359.3(TGM1):c.2226-2A>G	rs752349623
NM_000359.3(TGM1):c.320-1G>T	rs1156392436
NM_000359.3(TGM1):c.679C>T (p.Gln227Ter)	rs972054392
NM_000359.3(TGM1):c.802del (p.Val268fs)	rs1322979131
NM_000359.3(TGM1):c.919C>T (p.Arg307Trp)	rs121918731

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