ClinVar Miner

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

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000359.3(TGM1):c.1075G>A (p.Val359Met) rs202037016 0.00001
NM_000359.3(TGM1):c.1121A>G (p.Tyr374Cys) rs2040782954 0.00001
NM_000359.3(TGM1):c.1186C>T (p.Arg396Cys) rs543521135 0.00001
NM_000359.3(TGM1):c.1645+1G>T rs774242987 0.00001
NM_000359.3(TGM1):c.1645+2T>C rs113705469 0.00001
NM_000359.3(TGM1):c.1055C>T (p.Pro352Leu) rs1085308001
NM_000359.3(TGM1):c.1073G>A (p.Ser358Asn)
NM_000359.3(TGM1):c.1134G>T (p.Trp378Cys)
NM_000359.3(TGM1):c.1163T>C (p.Leu388Pro) rs1555306116
NM_000359.3(TGM1):c.1165C>T (p.Arg389Cys)
NM_000359.3(TGM1):c.1175G>T (p.Gly392Val) rs121918726
NM_000359.3(TGM1):c.1310T>G (p.Val437Gly)
NM_000359.3(TGM1):c.1414T>C (p.Cys472Arg)
NM_000359.3(TGM1):c.1472C>T (p.Thr491Met)
NM_000359.3(TGM1):c.1491+1G>C
NM_000359.3(TGM1):c.1571G>T (p.Gly524Val)
NM_000359.3(TGM1):c.1586C>T (p.Thr529Ile)
NM_000359.3(TGM1):c.1862A>G (p.Tyr621Cys) rs1566376648
NM_000359.3(TGM1):c.1990del (p.Ala664fs) rs1594567244
NM_000359.3(TGM1):c.2089-1G>C
NM_000359.3(TGM1):c.2260del (p.Gln754fs) rs2040682065
NM_000359.3(TGM1):c.319+2T>G
NM_000359.3(TGM1):c.635C>T (p.Ser212Phe) rs1555306304
NM_000359.3(TGM1):c.758-1G>A rs2040795178
NM_000359.3(TGM1):c.802G>T (p.Val268Phe)
NM_000359.3(TGM1):c.833G>C (p.Gly278Ala)
NM_000359.3(TGM1):c.856C>T (p.Arg286Trp) rs773777400
NM_000359.3(TGM1):c.857G>T (p.Arg286Leu) rs121918727
NM_000359.3(TGM1):c.893T>C (p.Leu298Pro)
NM_000359.3(TGM1):c.893T>G (p.Leu298Arg)
NM_000359.3(TGM1):c.944G>C (p.Arg315Pro)
NM_000359.3(TGM1):c.961G>T (p.Val321Phe)
NM_000359.3(TGM1):c.984+2T>G

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