List of variants in gene TINF2 studied for Dyskeratosis congenita

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 82

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HGVS	dbSNP
NM_001099274.3(TINF2):c.1003C>T (p.Leu335=)	rs200990844
NM_001099274.3(TINF2):c.1010del (p.Gly337fs)	rs756029660
NM_001099274.3(TINF2):c.1016C>T (p.Ala339Val)	rs1566366492
NM_001099274.3(TINF2):c.1025A>C (p.Glu342Ala)	rs1555303978
NM_001099274.3(TINF2):c.1029C>T (p.Asn343=)	rs199597631
NM_001099274.3(TINF2):c.1030C>T (p.Pro344Ser)	rs200454893
NM_001099274.3(TINF2):c.1073_1081dup (p.Met361_Asp362insAsnCysTyr)	rs776727691
NM_001099274.3(TINF2):c.1081A>G (p.Met361Val)
NM_001099274.3(TINF2):c.1083G>A (p.Met361Ile)
NM_001099274.3(TINF2):c.1090dup (p.Leu364fs)	rs1566366182
NM_001099274.3(TINF2):c.1092G>A (p.Leu364=)	rs184422577
NM_001099274.3(TINF2):c.1130-1G>T
NM_001099274.3(TINF2):c.1139C>T (p.Pro380Leu)
NM_001099274.3(TINF2):c.1140G>A (p.Pro380=)	rs10141326
NM_001099274.3(TINF2):c.1156G>A (p.Val386Ile)	rs749534744
NM_001099274.3(TINF2):c.115C>G (p.Arg39Gly)	rs1367518236
NM_001099274.3(TINF2):c.1166T>C (p.Ile389Thr)	rs192423622
NM_001099274.3(TINF2):c.1221+3G>C
NM_001099274.3(TINF2):c.1222G>C (p.Glu408Gln)	rs1594548909
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)	rs35653076
NM_001099274.3(TINF2):c.1288C>A (p.Pro430Thr)
NM_001099274.3(TINF2):c.1288C>T (p.Pro430Ser)	rs374776408
NM_001099274.3(TINF2):c.1290C>G (p.Pro430=)	rs201083863
NM_001099274.3(TINF2):c.1292del (p.Pro431fs)	rs770529422
NM_001099274.3(TINF2):c.1297G>C (p.Gly433Arg)	rs763867083
NM_001099274.3(TINF2):c.1307C>T (p.Ala436Val)	rs369249473
NM_001099274.3(TINF2):c.1312C>G (p.Pro438Ala)
NM_001099274.3(TINF2):c.1331G>A (p.Cys444Tyr)
NM_001099274.3(TINF2):c.1337A>T (p.Asp446Val)	rs532096263
NM_001099274.3(TINF2):c.141C>T (p.Gly47=)
NM_001099274.3(TINF2):c.159C>T (p.His53=)	rs370875792
NM_001099274.3(TINF2):c.163G>A (p.Glu55Lys)
NM_001099274.3(TINF2):c.167G>A (p.Arg56His)
NM_001099274.3(TINF2):c.217G>C (p.Gly73Arg)
NM_001099274.3(TINF2):c.218G>A (p.Gly73Asp)	rs1566369238
NM_001099274.3(TINF2):c.257_258del (p.His86fs)
NM_001099274.3(TINF2):c.28G>T (p.Ala10Ser)	rs746625511
NM_001099274.3(TINF2):c.302A>G (p.Lys101Arg)	rs1375036989
NM_001099274.3(TINF2):c.315G>A (p.Arg105=)	rs773958161
NM_001099274.3(TINF2):c.318G>C (p.Lys106Asn)
NM_001099274.3(TINF2):c.359A>G (p.Gln120Arg)	rs189265179
NM_001099274.3(TINF2):c.37C>T (p.Arg13Cys)
NM_001099274.3(TINF2):c.400-3T>C
NM_001099274.3(TINF2):c.400-9C>T	rs201087708
NM_001099274.3(TINF2):c.403C>T (p.Leu135Phe)	rs199740488
NM_001099274.3(TINF2):c.462C>T (p.Tyr154=)	rs778034325
NM_001099274.3(TINF2):c.500C>T (p.Ala167Val)
NM_001099274.3(TINF2):c.507+6G>A
NM_001099274.3(TINF2):c.517G>A (p.Val173Met)
NM_001099274.3(TINF2):c.520C>T (p.Leu174=)	rs374116388
NM_001099274.3(TINF2):c.569G>A (p.Arg190Lys)	rs1382407347
NM_001099274.3(TINF2):c.586A>G (p.Met196Val)
NM_001099274.3(TINF2):c.61C>G (p.Gln21Glu)	rs767648367
NM_001099274.3(TINF2):c.62A>G (p.Gln21Arg)	rs367835995
NM_001099274.3(TINF2):c.631C>G (p.Leu211Val)	rs746287594
NM_001099274.3(TINF2):c.640C>T (p.Pro214Ser)	rs372610524
NM_001099274.3(TINF2):c.659C>T (p.Pro220Leu)
NM_001099274.3(TINF2):c.684C>A (p.His228Gln)	rs370555134
NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser)	rs199422321
NM_001099274.3(TINF2):c.707C>T (p.Pro236Leu)
NM_001099274.3(TINF2):c.710G>A (p.Gly237Asp)	rs17102313
NM_001099274.3(TINF2):c.718C>T (p.Leu240Phe)	rs1594551965
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.771C>T (p.His257=)	rs75124018
NM_001099274.3(TINF2):c.778C>G (p.Leu260Val)	rs1594551733
NM_001099274.3(TINF2):c.793C>T (p.Arg265Ter)
NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys)	rs121918545
NM_001099274.3(TINF2):c.861G>C (p.Leu287=)	rs770236773
NM_001099274.3(TINF2):c.910G>A (p.Glu304Lys)	rs1566366788
NM_001099274.3(TINF2):c.914G>C (p.Ser305Thr)
NM_001099274.3(TINF2):c.917A>G (p.Lys306Arg)	rs1555304016
NM_001099274.3(TINF2):c.922G>C (p.Glu308Gln)	rs1232383398
NM_001099274.3(TINF2):c.922G>T (p.Glu308Ter)
NM_001099274.3(TINF2):c.929C>T (p.Ala310Val)
NM_001099274.3(TINF2):c.936C>A (p.Tyr312Ter)	rs201677741
NM_001099274.3(TINF2):c.937A>T (p.Thr313Ser)
NM_001099274.3(TINF2):c.967G>C (p.Ala323Pro)

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