ClinVar Miner

Variants with conflicting interpretations "risk factor" and "likely benign"

Submission 1 (risk factor) minimum review status: Submission 1 (risk factor) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
ClinVar version:

Total variants with conflicting interpretations: 107

HGVS dbSNP
NM_000016.5(ACADM):c.351A>C (p.Thr117=) rs74090726
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000051.3(ATM):c.146C>G (p.Ser49Cys) rs1800054
NM_000113.3(TOR1A):c.646G>C (p.Asp216His) rs1801968
NM_000157.4(GBA):c.1093G>A (p.Glu365Lys) rs2230288
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783
NM_000212.2(ITGB3):c.176T>C (p.Leu59Pro) rs5918
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177
NM_000248.3(MITF):c.952G>A (p.Glu318Lys) rs149617956
NM_000249.3(MLH1):c.394G>C (p.Asp132His) rs28930073
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555
NM_000361.2(THBD):c.127G>A (p.Ala43Thr) rs1800576
NM_000361.2(THBD):c.1483C>T (p.Pro495Ser) rs1800578
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000371.3(TTR):c.416C>T (p.Thr139Met) rs28933981
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000410.3(HFE):c.187C>G (p.His63Asp) rs1799945
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser) rs28997576
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000514.4(GDNF):c.277C>T (p.Arg93Trp) rs36119840
NM_000514.4(GDNF):c.448G>A (p.Asp150Asn) rs76466003
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) rs5219
NM_000545.6(HNF1A):c.79A>C (p.Ile27Leu) rs1169288
NM_000726.4(CACNB4):c.311G>T (p.Cys104Phe) rs1805031
NM_000796.5(DRD3):c.25G>A (p.Gly9Ser) rs6280
NM_000815.5(GABRD):c.659G>A (p.Arg220His) rs41307846
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194
NM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp) rs138292988
NM_001065.3(TNFRSF1A):c.625+10A>G rs1800693
NM_001077415.3(CRELD1):c.985C>T (p.Arg329Cys) rs28942091
NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser) rs10490924
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352
NM_001126112.2(TP53):c.*1175A>C rs78378222
NM_001142301.1(TMEM67):c.715A>T (p.Ser239Cys) rs111619594
NM_001314077.1(PROS1):c.1624G>A (p.Val542Met) rs138925964
NM_001366110.1(PAX4):c.421C>T (p.Arg141Trp) rs2233578
NM_001571.6(IRF3):c.829G>A (p.Ala277Thr) rs143769046
NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly) rs117412802
NM_001846.4(COL4A2):c.3448C>A (p.Gln1150Lys) rs62621875
NM_001846.4(COL4A2):c.5068G>A (p.Ala1690Thr) rs201105747
NM_001853.4(COL9A3):c.307C>T (p.Arg103Trp) rs61734651
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_002253.3(KDR):c.1444T>C (p.Cys482Arg) rs34231037
NM_002381.5(MATN3):c.908C>T (p.Thr303Met) rs77245812
NM_002386.3(MC1R):c.252C>A (p.Asp84Glu) rs1805006
NM_002386.3(MC1R):c.451C>T (p.Arg151Cys) rs1805007
NM_002386.3(MC1R):c.478C>T (p.Arg160Trp) rs1805008
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_003227.4(TFR2):c.1364G>A (p.Arg455Gln) rs41303501
NM_003235.5(TG):c.2200T>G (p.Ser734Ala) rs180223
NM_003235.5(TG):c.3082A>G (p.Met1028Val) rs853326
NM_003235.5(TG):c.5995C>T (p.Arg1999Trp) rs2076740
NM_003265.2(TLR3):c.889C>G (p.Leu297Val) rs35311343
NM_003300.4(TRAF3):c.352C>T (p.Arg118Trp) rs143813189
NM_004082.4(DCTN1):c.3746C>T (p.Thr1249Ile) rs72466496
NM_004132.5(HABP2):c.1601G>A (p.Gly534Glu) rs7080536
NM_005373.2(MPL):c.117G>T (p.Lys39Asn) rs17292650
NM_005956.4(MTHFD1):c.878G>A (p.Arg293His) rs34181110
NM_005957.4(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131
NM_006262.4(PRPH):c.421G>T (p.Asp141Tyr) rs58599399
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_013247.4(HTRA2):c.421G>T (p.Ala141Ser) rs72470544
NM_014141.6(CNTNAP2):c.2606T>C (p.Ile869Thr) rs121908445
NM_014946.3(SPAST):c.131C>T (p.Ser44Leu) rs121908515
NM_014946.3(SPAST):c.134C>A (p.Pro45Gln) rs121908517
NM_015074.3(KIF1B):c.2480C>T (p.Thr827Ile) rs121908162
NM_015074.3(KIF1B):c.3649C>T (p.Pro1217Ser) rs121908163
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071
NM_016335.5(PRODH):c.1357C>T (p.Arg453Cys) rs3970559
NM_016335.5(PRODH):c.1397C>T (p.Thr466Met) rs2870984
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776
NM_019112.3(ABCA7):c.2126_2132del (p.Glu709fs) rs1555685376
NM_019112.3(ABCA7):c.3641G>A (p.Trp1214Ter) rs201060968
NM_020975.6(RET):c.1941C>T (p.Ile647=) rs75225191
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558
NM_021098.3(CACNA1H):c.1853C>T (p.Pro618Leu) rs60734921
NM_021175.4(HAMP):c.212G>A (p.Gly71Asp) rs104894696
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409
NM_022162.3(NOD2):c.2104C>T (p.Arg702Trp) rs2066844
NM_022162.3(NOD2):c.2555A>G (p.Asn852Ser) rs104895467
NM_022162.3(NOD2):c.2722G>C (p.Gly908Arg) rs2066845
NM_022162.3(NOD2):c.2798+158C>T rs5743289
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847
NM_022437.3(ABCG8):c.55G>C (p.Asp19His) rs11887534
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) rs61729366
NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) rs738409
NM_030964.4(SPRY4):c.722C>A (p.Ser241Tyr) rs139512218
NM_032603.5(LOXL3):c.*908C>T rs72470545
NM_032737.4(LMNB2):c.265-6C>T rs267607650
NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln) rs121912497
NM_172056.2(KCNH2):c.526C>T (p.Arg176Trp) rs36210422
NM_172201.1(KCNE2):c.25C>G (p.Gln9Glu) rs16991652
NM_182919.3(TICAM1):c.1702G>A (p.Ala568Thr) rs143679494
NM_198056.2(SCN5A):c.3308C>A (p.Ser1103Tyr) rs7626962
NM_198056.2(SCN5A):c.3578G>A (p.Arg1193Gln) rs41261344
NM_198253.2(TERT):c.3184G>A (p.Ala1062Thr) rs35719940
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg) rs34778348
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255
NM_207034.3(EDN3):c.670G>A (p.Ala224Thr) rs11570351
NR_034061.1(CASP12):n.629T= rs497116
m.15497G>A rs199951903

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