ClinVar Miner

List of variants in gene TINF2 reported as uncertain significance for Revesz syndrome

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 12
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NM_001099274.3(TINF2):c.*53G>A rs886050429
NM_001099274.3(TINF2):c.-223C>G rs886050434
NM_001099274.3(TINF2):c.-277C>G rs886050435
NM_001099274.3(TINF2):c.-50A>G rs886050432
NM_001099274.3(TINF2):c.-93T>C rs886050433
NM_001099274.3(TINF2):c.1074T>C (p.Asp358=) rs886050430
NM_001099274.3(TINF2):c.400-5del rs769170035
NM_001099274.3(TINF2):c.507+5C>T rs761308889
NM_001099274.3(TINF2):c.62A>G (p.Gln21Arg) rs367835995
NM_001099274.3(TINF2):c.682C>T (p.His228Tyr) rs886050431
NM_001099274.3(TINF2):c.767G>A (p.Arg256Gln) rs779837822
NM_012461.3(TINF2):c.-316G>A rs886050436

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