ClinVar Miner

List of variants in gene TRNT1 reported as likely pathogenic for anemia

Included ClinVar conditions (281):
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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_182916.3(TRNT1):c.488A>T (p.Asp163Val) rs146717589 0.00006
NM_182916.3(TRNT1):c.1246A>G (p.Lys416Glu) rs199931785 0.00004
NM_182916.3(TRNT1):c.829G>T (p.Glu277Ter) rs370699359 0.00004
NM_182916.3(TRNT1):c.1010del (p.Thr337fs) rs772805677 0.00001
NC_000003.11:g.(?_3179743)_(3189406_?)del
NM_182916.3(TRNT1):c.1057-7C>G rs368078167
NM_182916.3(TRNT1):c.128_130del (p.Glu43del) rs876661297
NM_182916.3(TRNT1):c.342+1G>T
NM_182916.3(TRNT1):c.443C>T (p.Ala148Val) rs761516140
NM_182916.3(TRNT1):c.498_501del (p.Phe167fs) rs754883449
NM_182916.3(TRNT1):c.608G>A (p.Arg203Lys) rs750995691

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