ClinVar Miner

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

Included ClinVar conditions (262):
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Gene type:
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Total variants: 39
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HGVS dbSNP
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.1156G>A (p.Val386Ile)
NM_001099274.3(TINF2):c.115C>G (p.Arg39Gly)
NM_001099274.3(TINF2):c.1222G>C (p.Glu408Gln)
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.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.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.400-5del rs769170035
NM_001099274.3(TINF2):c.403C>T (p.Leu135Phe)
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.718C>T (p.Leu240Phe)
NM_001099274.3(TINF2):c.743C>T (p.Thr248Met) rs552794694
NM_001099274.3(TINF2):c.767G>A (p.Arg256Gln) rs779837822
NM_001099274.3(TINF2):c.778C>G (p.Leu260Val)
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_012461.3(TINF2):c.*671G>A rs886050429
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

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