ClinVar Miner

List of variants in gene TINF2 reported as pathogenic for anemia (disease)

Included ClinVar conditions (264):
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Total variants: 25
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HGVS dbSNP
NM_001099274.3(TINF2):c.1010del (p.Gly337fs) rs756029660
NM_001099274.3(TINF2):c.1090dup (p.Leu364fs) rs1566366182
NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser) rs199422321
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr) rs142777869
NM_001099274.3(TINF2):c.805C>T (p.Gln269Ter) rs387907153
NM_001099274.3(TINF2):c.811C>T (p.Gln271Ter) rs387907154
NM_001099274.3(TINF2):c.826del (p.Arg276fs) rs863223324
NM_001099274.3(TINF2):c.838A>G (p.Lys280Glu) rs121918543
NM_001099274.3(TINF2):c.838A>T (p.Lys280Ter) rs121918543
NM_001099274.3(TINF2):c.839del (p.Lys280fs)
NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys) rs199422322
NM_001099274.3(TINF2):c.844C>A (p.Arg282Ser) rs121918545
NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys) rs121918545
NM_001099274.3(TINF2):c.845G>A (p.Arg282His) rs121918544
NM_001099274.3(TINF2):c.847C>G (p.Pro283Ala) rs199422311
NM_001099274.3(TINF2):c.847C>T (p.Pro283Ser) rs199422311
NM_001099274.3(TINF2):c.848C>A (p.Pro283His) rs199422313
NM_001099274.3(TINF2):c.849dup (p.Thr284fs) rs199422315
NM_001099274.3(TINF2):c.850A>G (p.Thr284Ala) rs199422314
NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro) rs199422316
NM_001099274.3(TINF2):c.862T>C (p.Phe288Leu) rs199422317
NM_001099274.3(TINF2):c.865_866delinsAG (p.Pro289Ser) rs199422318
NM_001099274.3(TINF2):c.871A>G (p.Arg291Gly) rs199422319
NM_001099274.3(TINF2):c.892del (p.Gln298fs) rs199422320
NM_001099274.3(TINF2):c.936C>A (p.Tyr312Ter) rs201677741

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