ClinVar Miner

List of variants in gene TINF2 reported as likely benign for Dyskeratosis congenita

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Gene type:
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Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_001099274.3(TINF2):c.771C>T (p.His257=) rs75124018 0.00106
NM_001099274.3(TINF2):c.1059G>A (p.Lys353=) rs374320783 0.00030
NM_001099274.3(TINF2):c.1166T>C (p.Ile389Thr) rs192423622 0.00030
NM_001099274.3(TINF2):c.1290C>G (p.Pro430=) rs201083863 0.00024
NM_001099274.3(TINF2):c.520C>T (p.Leu174=) rs374116388 0.00013
NM_001099274.3(TINF2):c.1003C>T (p.Leu335=) rs200990844 0.00011
NM_001099274.3(TINF2):c.492A>G (p.Thr164=) rs781353658 0.00011
NM_001099274.3(TINF2):c.1302C>T (p.His434=) rs568909774 0.00008
NM_001099274.3(TINF2):c.1029C>T (p.Asn343=) rs199597631 0.00006
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.690C>G (p.Pro230=) rs764260132 0.00004
NM_001099274.3(TINF2):c.743C>T (p.Thr248Met) rs552794694 0.00004
NM_001099274.3(TINF2):c.819C>T (p.Ala273=) rs376845893 0.00004
NM_001099274.3(TINF2):c.1297G>C (p.Gly433Arg) rs763867083 0.00003
NM_001099274.3(TINF2):c.1299C>G (p.Gly433=) rs755970077 0.00003
NM_001099274.3(TINF2):c.210C>T (p.Ile70=) rs749135301 0.00003
NM_001099274.3(TINF2):c.504G>A (p.Gln168=) rs764829839 0.00003
NM_001099274.3(TINF2):c.51G>C (p.Ala17=) rs757222975 0.00003
NM_001099274.3(TINF2):c.912G>A (p.Glu304=) rs776136324 0.00003
NM_001099274.3(TINF2):c.1130-10C>T rs762697610 0.00002
NM_001099274.3(TINF2):c.399+12T>C rs1261166783 0.00002
NM_001099274.3(TINF2):c.411A>G (p.Gln137=) rs1180442127 0.00002
NM_001099274.3(TINF2):c.507+14A>G rs888526948 0.00002
NM_001099274.3(TINF2):c.861G>C (p.Leu287=) rs770236773 0.00002
NM_001099274.3(TINF2):c.879C>T (p.Leu293=) rs1475173024 0.00002
NM_001099274.3(TINF2):c.960A>C (p.Thr320=) rs1002974518 0.00002
NM_001099274.3(TINF2):c.1032A>G (p.Pro344=) rs1295609085 0.00001
NM_001099274.3(TINF2):c.1155C>T (p.Ser385=) rs948013496 0.00001
NM_001099274.3(TINF2):c.1222-5T>G rs763885098 0.00001
NM_001099274.3(TINF2):c.1305T>C (p.Gly435=) rs750447210 0.00001
NM_001099274.3(TINF2):c.1332T>C (p.Cys444=) rs1414894689 0.00001
NM_001099274.3(TINF2):c.198G>A (p.Val66=) rs1374640214 0.00001
NM_001099274.3(TINF2):c.400-4G>A rs1566368389 0.00001
NM_001099274.3(TINF2):c.45C>T (p.Ala15=) rs750285418 0.00001
NM_001099274.3(TINF2):c.462C>T (p.Tyr154=) rs778034325 0.00001
NM_001099274.3(TINF2):c.508-19C>T rs750306834 0.00001
NM_001099274.3(TINF2):c.684C>T (p.His228=) rs370555134 0.00001
NM_001099274.3(TINF2):c.759A>G (p.Leu253=) rs1456646494 0.00001
NM_001099274.3(TINF2):c.765C>A (p.Gly255=) rs1171794268 0.00001
NM_001099274.3(TINF2):c.783C>A (p.Ala261=) rs1468911267 0.00001
NM_001099274.3(TINF2):c.930G>A (p.Ala310=) rs778877023 0.00001
NM_001099274.3(TINF2):c.1035T>C (p.Val345=)
NM_001099274.3(TINF2):c.1047C>T (p.Ala349=)
NM_001099274.3(TINF2):c.1061+14A>G rs1040503982
NM_001099274.3(TINF2):c.1061+8_1061+9del
NM_001099274.3(TINF2):c.1062-14_1062-11del rs2138996774
NM_001099274.3(TINF2):c.1062-19_1062-18del
NM_001099274.3(TINF2):c.1062-4T>G rs769661599
NM_001099274.3(TINF2):c.1130-7C>T
NM_001099274.3(TINF2):c.1185C>T (p.Asp395=)
NM_001099274.3(TINF2):c.1188T>C (p.Ser396=) rs2040535359
NM_001099274.3(TINF2):c.1221+11del
NM_001099274.3(TINF2):c.1221+14A>C rs776525717
NM_001099274.3(TINF2):c.1222-11del rs746206409
NM_001099274.3(TINF2):c.1222-4A>T rs2138994887
NM_001099274.3(TINF2):c.1224A>G (p.Glu408=)
NM_001099274.3(TINF2):c.1227T>C (p.Ser409=)
NM_001099274.3(TINF2):c.1269C>A (p.Pro423=) rs777077289
NM_001099274.3(TINF2):c.1269C>T (p.Pro423=) rs777077289
NM_001099274.3(TINF2):c.1281A>G (p.Glu427=) rs2040528048
NM_001099274.3(TINF2):c.1284C>T (p.Tyr428=)
NM_001099274.3(TINF2):c.1285C>T (p.Leu429=) rs780647966
NM_001099274.3(TINF2):c.1290C>A (p.Pro430=) rs201083863
NM_001099274.3(TINF2):c.1329C>T (p.Asp443=)
NM_001099274.3(TINF2):c.193-7C>T
NM_001099274.3(TINF2):c.240G>A (p.Leu80=)
NM_001099274.3(TINF2):c.240G>C (p.Leu80=)
NM_001099274.3(TINF2):c.27C>T (p.Pro9=)
NM_001099274.3(TINF2):c.294G>A (p.Lys98=) rs1594555123
NM_001099274.3(TINF2):c.297+10C>T rs775877509
NM_001099274.3(TINF2):c.297+13C>T
NM_001099274.3(TINF2):c.297+18C>A
NM_001099274.3(TINF2):c.297+18C>G
NM_001099274.3(TINF2):c.298-10T>A rs1317116989
NM_001099274.3(TINF2):c.298-15C>T
NM_001099274.3(TINF2):c.298-19T>C
NM_001099274.3(TINF2):c.378G>A (p.Val126=)
NM_001099274.3(TINF2):c.393G>A (p.Lys131=) rs1373380506
NM_001099274.3(TINF2):c.394C>T (p.Leu132=)
NM_001099274.3(TINF2):c.399+9G>C
NM_001099274.3(TINF2):c.400-10C>T rs2139001198
NM_001099274.3(TINF2):c.400-11C>G
NM_001099274.3(TINF2):c.400-12C>T
NM_001099274.3(TINF2):c.400-17A>C rs1182153400
NM_001099274.3(TINF2):c.400-5del rs769170035
NM_001099274.3(TINF2):c.400-6C>T
NM_001099274.3(TINF2):c.414G>A (p.Glu138=)
NM_001099274.3(TINF2):c.447G>A (p.Lys149=) rs2040574153
NM_001099274.3(TINF2):c.450G>C (p.Leu150=)
NM_001099274.3(TINF2):c.459G>A (p.Glu153=)
NM_001099274.3(TINF2):c.45C>G (p.Ala15=) rs750285418
NM_001099274.3(TINF2):c.495G>A (p.Pro165=)
NM_001099274.3(TINF2):c.507+13del rs780404631
NM_001099274.3(TINF2):c.507+20T>C
NM_001099274.3(TINF2):c.508-10C>T
NM_001099274.3(TINF2):c.508-15T>C rs2139000398
NM_001099274.3(TINF2):c.508-18C>T rs780585800
NM_001099274.3(TINF2):c.525T>C (p.Ser175=)
NM_001099274.3(TINF2):c.555T>C (p.Ser185=)
NM_001099274.3(TINF2):c.564C>G (p.Ala188=)
NM_001099274.3(TINF2):c.597G>A (p.Leu199=)
NM_001099274.3(TINF2):c.604+10A>G
NM_001099274.3(TINF2):c.604+13T>C
NM_001099274.3(TINF2):c.604+15G>A
NM_001099274.3(TINF2):c.605-17C>T
NM_001099274.3(TINF2):c.605-20G>A
NM_001099274.3(TINF2):c.631C>T (p.Leu211=)
NM_001099274.3(TINF2):c.714A>T (p.Thr238=)
NM_001099274.3(TINF2):c.747C>T (p.His249=)
NM_001099274.3(TINF2):c.789A>T (p.Leu263=)
NM_001099274.3(TINF2):c.813A>G (p.Gln271=)
NM_001099274.3(TINF2):c.831A>G (p.Gly277=)
NM_001099274.3(TINF2):c.837T>C (p.His279=)
NM_001099274.3(TINF2):c.864T>C (p.Phe288=) rs2138998003
NM_001099274.3(TINF2):c.867C>T (p.Pro289=)
NM_001099274.3(TINF2):c.885A>G (p.Ser295=)
NM_001099274.3(TINF2):c.891C>G (p.Thr297=)
NM_001099274.3(TINF2):c.948A>G (p.Leu316=)
NM_001099274.3(TINF2):c.984T>C (p.Ser328=) rs751773020
NM_001099274.3(TINF2):c.9G>A (p.Thr3=) rs748683638
NM_001099274.3(TINF2):c.9G>C (p.Thr3=)

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