List of variants in gene TGM1 reported as pathogenic for Autosomal recessive congenital ichthyosis 1

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: 99

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HGVS	dbSNP	gnomAD frequency
NM_000359.3(TGM1):c.1552G>A (p.Val518Met)	rs35312232	0.01146
NM_000359.3(TGM1):c.125C>A (p.Ser42Tyr)	rs41295338	0.00428
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.281G>A (p.Gly94Asp)	rs121918729	0.00025
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.420A>G (p.Ile140Met)	rs139208806	0.00008
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys)	rs397514524	0.00006
NM_000359.3(TGM1):c.377G>A (p.Arg126His)	rs200491579	0.00004
NM_000359.3(TGM1):c.425G>A (p.Arg142His)	rs121918718	0.00004
NM_000359.3(TGM1):c.876+2T>C	rs151054393	0.00004
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly)	rs121918724	0.00003
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.316C>T (p.Arg106Ter)	rs773303931	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.1075G>A (p.Val359Met)	rs202037016	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.1645+1G>T	rs774242987	0.00001
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.2278C>T (p.Arg760Ter)	rs398122904	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.430G>A (p.Gly144Arg)	rs778635368	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.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.943C>T (p.Arg315Cys)	rs397514525	0.00001
NM_000359.3(TGM1):c.1019G>A (p.Gly340Glu)	rs867950920
NM_000359.3(TGM1):c.1054C>G (p.Pro352Ala)	rs1594571148
NM_000359.3(TGM1):c.1074C>G (p.Ser358Arg)	rs779287673
NM_000359.3(TGM1):c.1145_1146delinsTGCT (p.Gly382fs)
NM_000359.3(TGM1):c.1147G>A (p.Val383Met)	rs121918722
NM_000359.3(TGM1):c.1166G>A (p.Arg389His)	rs121918723
NM_000359.3(TGM1):c.1166G>C (p.Arg389Pro)	rs121918723
NM_000359.3(TGM1):c.1175G>A (p.Gly392Asp)	rs121918726
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.1226_1227del (p.Thr409fs)	rs1555306113
NM_000359.3(TGM1):c.1264A>T (p.Lys422Ter)	rs563305936
NM_000359.3(TGM1):c.1297del (p.Trp433fs)	rs2139023508
NM_000359.3(TGM1):c.1298+1G>A	rs1566378425
NM_000359.3(TGM1):c.1304_1308del (p.Phe435fs)	rs398122900
NM_000359.3(TGM1):c.1307A>G (p.His436Arg)	rs1381998109
NM_000359.3(TGM1):c.131G>A (p.Trp44Ter)	rs1566381457
NM_000359.3(TGM1):c.1331dup (p.Arg445fs)	rs398122903
NM_000359.3(TGM1):c.1363T>C (p.Trp455Arg)	rs863223405
NM_000359.3(TGM1):c.1402+1G>A	rs2040774076
NM_000359.3(TGM1):c.1407_1416delinsGCTCTGT (p.Ile469_Cys471delinsMetLeu)	rs1064794422
NM_000359.3(TGM1):c.1521del (p.Gln508fs)	rs1566377068
NM_000359.3(TGM1):c.1555G>T (p.Glu519Ter)
NM_000359.3(TGM1):c.1645+1G>A
NM_000359.3(TGM1):c.1923_1927+2del	rs398122902
NM_000359.3(TGM1):c.1927+1G>A
NM_000359.3(TGM1):c.1928-1G>A	rs112419023
NM_000359.3(TGM1):c.1977del (p.Val660fs)
NM_000359.3(TGM1):c.1984C>T (p.Gln662Ter)	rs1555305725
NM_000359.3(TGM1):c.2059del (p.Arg687fs)
NM_000359.3(TGM1):c.2060G>A (p.Arg687His)	rs2139018911
NM_000359.3(TGM1):c.2090T>G (p.Leu697Ter)	rs747781875
NM_000359.3(TGM1):c.2114del (p.Gln705fs)	rs2139018490
NM_000359.3(TGM1):c.211C>T (p.Arg71Ter)	rs2040818118
NM_000359.3(TGM1):c.2226-2A>G	rs752349623
NM_000359.3(TGM1):c.305A>T (p.Asp102Val)	rs398122901
NM_000359.3(TGM1):c.344dup (p.Asp116fs)
NM_000359.3(TGM1):c.370C>T (p.Gln124Ter)
NM_000359.3(TGM1):c.398_407dup (p.Tyr136Ter)	rs1057517836
NM_000359.3(TGM1):c.400T>C (p.Tyr134His)	rs1230140208
NM_000359.3(TGM1):c.408_411dup (p.Glu138fs)	rs2139027688
NM_000359.3(TGM1):c.425G>C (p.Arg142Pro)	rs121918718
NM_000359.3(TGM1):c.479C>G (p.Ser160Cys)	rs121918728
NM_000359.3(TGM1):c.566dup (p.Ser190fs)	rs1211601030
NM_000359.3(TGM1):c.578G>A (p.Trp193Ter)
NM_000359.3(TGM1):c.607C>T (p.Gln203Ter)	rs201167101
NM_000359.3(TGM1):c.614T>A (p.Leu205Gln)	rs878853259
NM_000359.3(TGM1):c.674_675delinsCT (p.Arg225Pro)	rs2139026104
NM_000359.3(TGM1):c.679C>T (p.Gln227Ter)	rs972054392
NM_000359.3(TGM1):c.802del (p.Val268fs)	rs1322979131
NM_000359.3(TGM1):c.826T>A (p.Tyr276Asn)	rs397514523
NM_000359.3(TGM1):c.866A>C (p.Asn289Thr)	rs121918730
NM_000359.3(TGM1):c.919C>T (p.Arg307Trp)	rs121918731
NM_000359.3(TGM1):c.944G>A (p.Arg315His)	rs143473912
NM_000359.3(TGM1):c.984+1G>A	rs749160734
TGM1, -86C-T

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