ClinVar Miner

List of variants reported as pathogenic for pulmonary fibrosis and/or bone marrow failure, telomere-related by OMIM

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NR_001566.3(TERC):n.58G>A rs113487931 0.01733
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664 0.00009
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_001283009.2(RTEL1):c.2957G>A (p.Arg986Gln) rs146221660 0.00004
NM_002582.4(PARN):c.1262A>G (p.Lys421Arg) rs777090017 0.00001
NM_002945.5(RPA1):c.680T>C (p.Val227Ala) rs570041689 0.00001
NM_198253.3(TERT):c.2080G>A (p.Val694Met) rs121918662 0.00001
NM_198253.3(TERT):c.2594G>A (p.Arg865His) rs121918666 0.00001
NM_198253.3(TERT):c.508G>A (p.Val170Met) rs387907248 0.00001
NM_001283009.2(RTEL1):c.1451C>T (p.Pro484Leu) rs786205700
NM_001283009.2(RTEL1):c.2005C>T (p.Gln669Ter) rs1555811762
NM_001283009.2(RTEL1):c.2219_2227del (p.His740_Ile742del) rs863225053
NM_001283009.2(RTEL1):c.2413+1G>C rs776744306
NM_001283009.2(RTEL1):c.3371A>C (p.His1124Pro) rs786205702
NM_001283009.2(RTEL1):c.602del (p.Gly201fs) rs863223336
NM_002582.4(PARN):c.246-2A>G rs751381953
NM_002582.4(PARN):c.529C>T (p.Gln177Ter) rs876661305
NM_002582.4(PARN):c.563dup (p.Glu189fs) rs878853260
NM_002945.5(RPA1):c.718G>A (p.Glu240Lys) rs916648829
NM_002945.5(RPA1):c.808A>G (p.Thr270Ala) rs2151286956
NM_015450.3(POT1):c.776T>C (p.Leu259Ser)
NM_017612.5(ZCCHC8):c.557C>T (p.Pro186Leu) rs1317757765
NM_018648.4(NOP10):c.17A>G (p.Tyr6Cys)
NM_138386.3(NAF1):c.956_957del (p.Lys319fs)
NM_138386.3(NAF1):c.984dup (p.Ser329fs)
NM_198253.2(TERT):c.[2371G>A;2599G>A]
NM_198253.3(TERT):c.164T>A (p.Leu55Gln) rs387907247
NM_198253.3(TERT):c.2146G>A (p.Ala716Thr) rs387907249
NM_198253.3(TERT):c.219+1G>A rs199422309
NM_198253.3(TERT):c.2240del (p.Val747fs) rs199422300
NM_198253.3(TERT):c.2315A>G (p.Tyr772Cys) rs121918663
NM_198253.3(TERT):c.2583-2A>C rs111576740
NM_198253.3(TERT):c.2705A>G (p.Lys902Arg) rs387907250
NM_198253.3(TERT):c.2768C>T (p.Pro923Leu) rs387907251
NR_001566.3(TERC):n.108_111delCTGA rs199422270
NR_001566.3(TERC):n.116C>T rs199422272
NR_001566.3(TERC):n.143G>A rs199422274
NR_001566.3(TERC):n.204C>G rs199422277
NR_001566.3(TERC):n.212C>G rs2108183105
NR_001566.3(TERC):n.325G>T rs1777959964
NR_001566.3(TERC):n.72C>G rs199422265
NR_001566.3(TERC):n.98G>A rs199422268

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