ClinVar Miner

List of variants studied for Revesz syndrome

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_001099274.3(TINF2):c.1140G>A (p.Pro380=) rs10141326 0.06408
NM_001099274.3(TINF2):c.710G>A (p.Gly237Asp) rs17102313 0.03737
NM_001099274.3(TINF2):c.-266G>A rs35886534 0.00868
NM_001099274.3(TINF2):c.-260G>C rs28372734 0.00732
NM_001099274.3(TINF2):c.-91C>T rs36124829 0.00557
NM_001099274.3(TINF2):c.-225G>A rs35781178 0.00421
NM_001099274.3(TINF2):c.1092G>A (p.Leu364=) rs184422577 0.00410
NM_001099274.3(TINF2):c.1236C>T (p.Asn412=) rs117234138 0.00329
NM_001099274.3(TINF2):c.74G>C (p.Gly25Ala) rs202093758 0.00166
NM_001099274.3(TINF2):c.359A>G (p.Gln120Arg) rs189265179 0.00163
NM_001099274.3(TINF2):c.-161G>A rs577503785 0.00138
NM_001099274.3(TINF2):c.771C>T (p.His257=) rs75124018 0.00106
NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser) rs199422321 0.00077
NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys) rs199422322 0.00058
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr) rs142777869 0.00034
NM_001099274.3(TINF2):c.-172A>C rs11557911 0.00033
NM_001099274.3(TINF2):c.-233T>G rs868258192 0.00030
NM_001099274.3(TINF2):c.1290C>G (p.Pro430=) rs201083863 0.00024
NM_001099274.3(TINF2):c.*91T>C rs183352266 0.00019
NM_001099274.3(TINF2):c.371C>T (p.Ala124Val) rs369712095 0.00013
NM_001099274.3(TINF2):c.403C>T (p.Leu135Phe) rs199740488 0.00012
NM_001099274.3(TINF2):c.1030C>T (p.Pro344Ser) rs200454893 0.00010
NM_001099274.3(TINF2):c.1307C>T (p.Ala436Val) rs369249473 0.00008
NM_001099274.3(TINF2):c.62A>G (p.Gln21Arg) rs367835995 0.00006
NM_001099274.3(TINF2):c.936C>A (p.Tyr312Ter) rs201677741 0.00006
NM_001099274.3(TINF2):c.318G>C (p.Lys106Asn) rs765992492 0.00005
NM_001099274.3(TINF2):c.*33C>T rs777445803 0.00004
NM_001099274.3(TINF2):c.30A>G (p.Ala10=) rs779819186 0.00004
NM_001099274.3(TINF2):c.315G>A (p.Arg105=) rs773958161 0.00004
NM_001099274.3(TINF2):c.507+5C>T rs761308889 0.00004
NM_001099274.3(TINF2):c.767G>A (p.Arg256Gln) rs779837822 0.00004
NM_001099274.3(TINF2):c.-277C>G rs886050435 0.00003
NM_001099274.3(TINF2):c.1084G>C (p.Asp362His) rs371044766 0.00002
NM_001099274.3(TINF2):c.1139C>T (p.Pro380Leu) rs201422008 0.00001
NM_001099274.3(TINF2):c.253C>G (p.His85Asp) rs758462532 0.00001
NM_001099274.3(TINF2):c.622T>C (p.Ser208Pro) rs377436580 0.00001
NM_001099274.3(TINF2):c.802G>C (p.Val268Leu) rs369926102 0.00001
NM_001099274.3(TINF2):c.*53G>A rs886050429
NM_001099274.3(TINF2):c.-130A>G rs2040602733
NM_001099274.3(TINF2):c.-223C>G rs886050434
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.1285C>A (p.Leu429Ile) rs780647966
NM_001099274.3(TINF2):c.1338_1339del (p.Asp446fs)
NM_001099274.3(TINF2):c.400-5del rs769170035
NM_001099274.3(TINF2):c.494_502del (p.Pro165_Ala167del) rs747496593
NM_001099274.3(TINF2):c.517G>A (p.Val173Met) rs2040569011
NM_001099274.3(TINF2):c.607T>C (p.Cys203Arg) rs2040562236
NM_001099274.3(TINF2):c.682C>T (p.His228Tyr) rs886050431
NM_001099274.3(TINF2):c.81C>A (p.Cys27Ter) rs1060499576
NM_001099274.3(TINF2):c.839del (p.Lys280fs) rs1594551449
NM_001099274.3(TINF2):c.845G>A (p.Arg282His) rs121918544
NM_012461.3(TINF2):c.-316G>A rs886050436

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