ClinVar Miner

List of variants in gene TINF2 studied for anemia (disease)

Included ClinVar conditions (263):
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Total variants: 86
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HGVS dbSNP
NM_001099274.3(TINF2):c.-161G>A rs577503785
NM_001099274.3(TINF2):c.-172A>C rs11557911
NM_001099274.3(TINF2):c.-225G>A rs35781178
NM_001099274.3(TINF2):c.-260G>C rs28372734
NM_001099274.3(TINF2):c.-266G>A rs35886534
NM_001099274.3(TINF2):c.-91C>T rs36124829
NM_001099274.3(TINF2):c.1010del (p.Gly337fs) rs756029660
NM_001099274.3(TINF2):c.1016C>T (p.Ala339Val) rs1566366492
NM_001099274.3(TINF2):c.1030C>T (p.Pro344Ser)
NM_001099274.3(TINF2):c.1073_1081dup (p.Met361_Asp362insAsnCysTyr)
NM_001099274.3(TINF2):c.1074T>C (p.Asp358=) rs886050430
NM_001099274.3(TINF2):c.1090dup (p.Leu364fs) rs1566366182
NM_001099274.3(TINF2):c.1092G>A (p.Leu364=) rs184422577
NM_001099274.3(TINF2):c.1140G>A (p.Pro380=) rs10141326
NM_001099274.3(TINF2):c.1156G>A (p.Val386Ile)
NM_001099274.3(TINF2):c.115C>G (p.Arg39Gly)
NM_001099274.3(TINF2):c.1166T>C (p.Ile389Thr) rs192423622
NM_001099274.3(TINF2):c.1222G>C (p.Glu408Gln)
NM_001099274.3(TINF2):c.1236C>T (p.Asn412=) rs117234138
NM_001099274.3(TINF2):c.1253T>C (p.Phe418Ser) rs773286175
NM_001099274.3(TINF2):c.127G>A (p.Ala43Thr)
NM_001099274.3(TINF2):c.1288C>T (p.Pro430Ser)
NM_001099274.3(TINF2):c.1290C>G (p.Pro430=) rs201083863
NM_001099274.3(TINF2):c.1292del (p.Pro431fs)
NM_001099274.3(TINF2):c.1307C>T (p.Ala436Val)
NM_001099274.3(TINF2):c.1337A>T (p.Asp446Val) rs532096263
NM_001099274.3(TINF2):c.159C>T (p.His53=) rs370875792
NM_001099274.3(TINF2):c.218G>A (p.Gly73Asp) rs1566369238
NM_001099274.3(TINF2):c.28G>T (p.Ala10Ser)
NM_001099274.3(TINF2):c.302A>G (p.Lys101Arg) rs1375036989
NM_001099274.3(TINF2):c.359A>G (p.Gln120Arg) rs189265179
NM_001099274.3(TINF2):c.400-5del rs769170035
NM_001099274.3(TINF2):c.400-9C>T rs201087708
NM_001099274.3(TINF2):c.403C>T (p.Leu135Phe)
NM_001099274.3(TINF2):c.45C>T (p.Ala15=) rs750285418
NM_001099274.3(TINF2):c.520C>T (p.Leu174=) rs374116388
NM_001099274.3(TINF2):c.569G>A (p.Arg190Lys)
NM_001099274.3(TINF2):c.61C>G (p.Gln21Glu)
NM_001099274.3(TINF2):c.640C>T (p.Pro214Ser)
NM_001099274.3(TINF2):c.684C>A (p.His228Gln)
NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser) rs199422321
NM_001099274.3(TINF2):c.710G>A (p.Gly237Asp) rs17102313
NM_001099274.3(TINF2):c.718C>T (p.Leu240Phe)
NM_001099274.3(TINF2):c.721C>T (p.Pro241Ser) rs17102311
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr) rs142777869
NM_001099274.3(TINF2):c.743C>T (p.Thr248Met) rs552794694
NM_001099274.3(TINF2):c.74G>C (p.Gly25Ala) rs202093758
NM_001099274.3(TINF2):c.767G>A (p.Arg256Gln) rs779837822
NM_001099274.3(TINF2):c.771C>T (p.His257=) rs75124018
NM_001099274.3(TINF2):c.778C>G (p.Leu260Val)
NM_001099274.3(TINF2):c.81C>A (p.Cys27Ter) rs1060499576
NM_001099274.3(TINF2):c.838A>G (p.Lys280Glu) 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>T (p.Pro283Ser) rs199422311
NM_001099274.3(TINF2):c.849dup (p.Thr284fs) rs199422315
NM_001099274.3(TINF2):c.892del (p.Gln298fs) rs199422320
NM_001099274.3(TINF2):c.910G>A (p.Glu304Lys) rs1566366788
NM_001099274.3(TINF2):c.917A>G (p.Lys306Arg) rs1555304016
NM_001099274.3(TINF2):c.922G>C (p.Glu308Gln)
NM_001099274.3(TINF2):c.936C>A (p.Tyr312Ter) rs201677741
NM_012461.3(TINF2):c.*671G>A rs886050429
NM_012461.3(TINF2):c.*709T>C rs183352266
NM_012461.3(TINF2):c.-223C>G rs886050434
NM_012461.3(TINF2):c.-277C>G rs886050435
NM_012461.3(TINF2):c.-316G>A rs886050436
NM_012461.3(TINF2):c.-50A>G rs886050432
NM_012461.3(TINF2):c.-93T>C rs886050433
NM_012461.3(TINF2):c.1025A>C (p.Glu342Ala) rs1555303978
NM_012461.3(TINF2):c.507+5C>T rs761308889
NM_012461.3(TINF2):c.62A>G (p.Gln21Arg) rs367835995
NM_012461.3(TINF2):c.682C>T (p.His228Tyr) rs886050431
NM_012461.3(TINF2):c.805C>T (p.Gln269Ter) rs387907153
NM_012461.3(TINF2):c.811C>T (p.Gln271Ter) rs387907154
NM_012461.3(TINF2):c.826del (p.Arg276fs) rs863223324
NM_012461.3(TINF2):c.838A>T (p.Lys280Ter) rs121918543
NM_012461.3(TINF2):c.847C>G (p.Pro283Ala) rs199422311
NM_012461.3(TINF2):c.848C>A (p.Pro283His) rs199422313
NM_012461.3(TINF2):c.850A>G (p.Thr284Ala) rs199422314
NM_012461.3(TINF2):c.860T>C (p.Leu287Pro) rs199422316
NM_012461.3(TINF2):c.862T>C (p.Phe288Leu) rs199422317
NM_012461.3(TINF2):c.865_866delinsAG (p.Pro289Ser) rs199422318
NM_012461.3(TINF2):c.871A>G (p.Arg291Gly) rs199422319

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