ClinVar Miner

List of variants reported as likely benign by Genetics and Molecular Pathology, SA Pathology

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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_001966.4(EHHADH):c.910+7C>A rs17283799 0.00874
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393 0.00824
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val) rs547352394 0.00722
NM_001845.6(COL4A1):c.4640+8G>A rs117566874 0.00671
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_001277115.2(DNAH11):c.640A>G (p.Ile214Val) rs117064287 0.00595
NM_022168.4(IFIH1):c.2807+1G>A rs35732034 0.00502
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro) rs62346982 0.00470
NM_001270974.2(HYDIN):c.131G>A (p.Arg44Gln) rs113448164 0.00384
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399 0.00370
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_001172303.3(MASTL):c.2620G>A (p.Val874Ile) rs138288481 0.00338
NM_145045.5(ODAD3):c.254G>A (p.Arg85Gln) rs143192349 0.00328
NM_001555.5(IGSF1):c.668-8G>A rs181264169 0.00322
NM_023036.6(DNAI2):c.468-4G>T rs146462823 0.00321
NM_000208.4(INSR):c.2971C>A (p.Leu991Ile) rs150114699 0.00307
NM_000369.5(TSHR):c.881+3A>G rs186091357 0.00298
NM_001142864.4(PIEZO1):c.3667G>A (p.Val1223Ile) rs185326407 0.00296
NM_000492.4(CFTR):c.4242+13A>G rs76179227 0.00295
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_001291303.3(FAT4):c.4303A>G (p.Ile1435Val) rs142747281 0.00288
NM_032043.3(BRIP1):c.*128A>G rs150444311 0.00277
NM_005026.5(PIK3CD):c.1809G>C (p.Leu603=) rs151278626 0.00268
NM_001876.4(CPT1A):c.302C>T (p.Thr101Met) rs61731903 0.00262
NM_022168.4(IFIH1):c.2105C>T (p.Thr702Ile) rs72650663 0.00253
NM_001282225.2(ADA2):c.1045G>A (p.Val349Ile) rs74317375 0.00227
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945 0.00185
NM_152564.5(VPS13B):c.5905A>G (p.Ile1969Val) rs139640224 0.00154
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747 0.00150
NM_014915.3(ANKRD26):c.3007G>A (p.Glu1003Lys) rs41304587 0.00141
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562 0.00124
NM_019616.4(F7):c.785G>A (p.Arg262Gln) rs77121822 0.00118
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_001277115.2(DNAH11):c.9110A>G (p.His3037Arg) rs192327380 0.00070
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln) rs202080221 0.00066
NM_024529.5(CDC73):c.-11G>A rs80356643 0.00056
NM_001626.6(AKT2):c.347G>C (p.Gly116Ala) rs141209878 0.00036
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_001270508.2(TNFAIP3):c.322A>G (p.Thr108Ala) rs376205580 0.00033
NM_001270508.2(TNFAIP3):c.295+8T>C rs370813134 0.00032
NM_144687.4(NLRP12):c.629C>T (p.Pro210Leu) rs377594629 0.00021
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_004963.4(GUCY2C):c.2384G>A (p.Arg795Lys) rs147296490 0.00016
NM_007259.5(VPS45):c.1701G>A (p.Ala567=) rs377365764 0.00016
NM_003978.5(PSTPIP1):c.355-16C>G rs767272289 0.00015
NM_001972.4(ELANE):c.490G>C (p.Gly164Arg) rs112990855 0.00014
NM_002661.5(PLCG2):c.2055-7G>A rs373933998 0.00014
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val) rs80358589 0.00013
NM_001270508.2(TNFAIP3):c.619A>C (p.Ile207Leu) rs141807543 0.00013
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926 0.00011
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met) rs148716935 0.00011
NM_000059.4(BRCA2):c.2488A>G (p.Asn830Asp) rs574039421 0.00010
NM_016816.4(OAS1):c.523G>A (p.Glu175Lys) rs148820389 0.00006
NM_024675.4(PALB2):c.3297G>A (p.Thr1099=) rs45565738 0.00006
NM_030665.4(RAI1):c.1882G>A (p.Glu628Lys) rs371291565 0.00006
NM_000059.4(BRCA2):c.750G>A (p.Val250=) rs143214959 0.00005
NM_004082.5(DCTN1):c.673C>T (p.Arg225Trp) rs371723224 0.00004
NM_013275.6(ANKRD11):c.2216C>T (p.Ser739Leu) rs146294483 0.00003
NM_032043.3(BRIP1):c.3042T>C (p.Gly1014=) rs188258913 0.00003
NM_000059.4(BRCA2):c.4716C>G (p.Ala1572=) rs1057521370 0.00001
NM_000059.4(BRCA2):c.909T>G (p.Ser303=) rs757430441 0.00001
NM_007294.4(BRCA1):c.2497T>C (p.Leu833=) rs887578121 0.00001
NM_000059.4(BRCA2):c.10013C>A (p.Ser3338Ter) rs1593202166
NM_000059.4(BRCA2):c.5081G>A (p.Arg1694Lys) rs753721331
NM_000264.5(PTCH1):c.1729-11del rs779000277
NM_000388.4(CASR):c.1212C>T (p.Val404=) rs967661303
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001142864.4(PIEZO1):c.2330-9_2330-2dup
NM_001353345.2(SETD1B):c.3164C>G (p.Ser1055Cys) rs2137567257
NM_001454.4(FOXJ1):c.1015G>A (p.Ala339Thr)
NM_001481.3(GAS8):c.245G>A (p.Arg82Gln) rs884928
NM_144997.7(FLCN):c.871+170_871+178del rs750424403

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