ClinVar Miner

Variants with conflicting interpretations "uncertain significance" and "risk factor"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (risk factor) minimum review status: Submission 2 (risk factor) method:
ClinVar version:

Total variants with conflicting interpretations: 95

HGVS dbSNP
Multiple alleles
NM_000038.5(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000064.3(C3):c.463A>C (p.Lys155Gln) rs147859257
NM_000077.4(CDKN2A):c.266G>A (p.Gly89Asp) rs137854599
NM_000077.4(CDKN2A):c.301G>T (p.Gly101Trp) rs104894094
NM_000115.4(EDNRB):c.169G>A (p.Gly57Ser) rs1801710
NM_000204.4(CFI):c.355G>A (p.Gly119Arg) rs141853578
NM_000209.3(PDX1):c.226G>A (p.Asp76Asn) rs137852783
NM_000219.5(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000238.3(KCNH2):c.526C>T (p.Arg176Trp) rs36210422
NM_000248.3(MITF):c.952G>A (p.Glu318Lys) rs149617956
NM_000249.3(MLH1):c.394G>C (p.Asp132His) rs28930073
NM_000254.2(MTR):c.2756A>G (p.Asp919Gly) rs1805087
NM_000314.7(PTEN):c.701G>A (p.Arg234Gln) rs121909235
NM_000335.4(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
NM_000372.4(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000388.3(CASR):c.2693G>A (p.Arg898Gln) rs121909269
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000546.5(TP53):c.*1175A>C rs78378222
NM_000546.5(TP53):c.542G>T (p.Arg181Leu) rs397514495
NM_000552.4(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386
NM_000726.4(CACNB4):c.311G>T (p.Cys104Phe) rs1805031
NM_000814.5(GABRB3):c.-719C>T rs121913126
NM_000814.6(GABRB3):c.94G>A (p.Gly32Arg) rs71651682
NM_001005741.2(GBA):c.1093G>A (p.Glu365Lys) rs2230288
NM_001005741.2(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_001035256.2(POMC):c.706C>G (p.Arg236Gly) rs28932472
NM_001135041.2(DCTN1):c.1951C>T (p.Arg651Trp) rs121909344
NM_001166110.1(PALLD):c.415C>T (p.Pro139Ser) rs121908291
NM_001190836.1(DCTN1):c.3620C>T (p.Thr1207Ile) rs72466496
NM_001256849.1(POLD1):c.980C>T (p.Pro327Leu) rs397514633
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp) rs35155575
NM_001845.5(COL4A1):c.1055C>T (p.Pro352Leu) rs200786329
NM_001943.4(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_002016.1(FLG):c.2282_2285delCAGT (p.Ser761Cysfs) rs558269137
NM_002454.2(MTRR):c.66A>G (p.Ile22Met) rs1801394
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_003122.4(SPINK1):c.101A>G (p.Asn34Ser) rs17107315
NM_003265.2(TLR3):c.1660C>T (p.Pro554Ser) rs121434431
NM_003265.2(TLR3):c.889C>G (p.Leu297Val) rs35311343
NM_003924.3(PHOX2B):c.299G>T (p.Arg100Leu) rs104893855
NM_004366.5(CLCN2):c.1730G>A (p.Arg577Gln) rs137852682
NM_004366.5(CLCN2):c.704G>A (p.Arg235Gln) rs71318369
NM_004612.2(TGFBR1):c.134A>G (p.Asn45Ser) rs387906696
NM_004612.4(TGFBR1):c.154G>C (p.Gly52Arg) rs587776865
NM_005957.4(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131
NM_006013.4(RPL10):c.639C>G (p.His213Gln) rs782521991
NM_006262.3(PRPH):c.421G>T (p.Asp141Tyr) rs58599399
NM_006914.3(RORB):c.218T>C (p.Leu73Pro) rs869312971
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_014141.5(CNTNAP2):c.2606T>C (p.Ile869Thr) rs121908445
NM_014625.3(NPHS2):c.686G>A (p.Arg229Gln) rs61747728
NM_014946.3(SPAST):c.134C>A (p.Pro45Gln) rs121908517
NM_015272.4(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071
NM_015450.2(POT1):c.1851_1852delTA (p.Asp617Glufs) rs758673417
NM_015450.2(POT1):c.266A>G (p.Tyr89Cys) rs587777472
NM_015450.2(POT1):c.283G>T (p.Gly95Cys) rs797045168
NM_015450.2(POT1):c.670G>A (p.Asp224Asn) rs202187871
NM_015513.4(CRELD1):c.932C>T (p.Thr311Ile) rs28942092
NM_016222.3(DDX41):c.3G>A (p.Met1Ile) rs141601766
NM_016335.4(PRODH):c.1322T>C (p.Leu441Pro) rs2904551
NM_016335.4(PRODH):c.1357C>T (p.Arg453Cys) rs3970559
NM_016335.4(PRODH):c.865T>A (p.Leu289Met) rs137852934
NM_018100.3(EFHC1):c.685T>C (p.Phe229Leu) rs137852776
NM_018196.3(TMLHE):c.229C>T (p.Arg77Ter) rs781889971
NM_019112.3(ABCA7):c.2126_2131del (p.Glu709_Gln710del) rs1555685376
NM_019112.3(ABCA7):c.3641G>A (p.Trp1214Ter) rs201060968
NM_019619.3(PARD3):c.1046G>A (p.Arg349His) rs199923448
NM_020975.4(RET):c.1941C>T (p.Ile647=) rs75225191
NM_020975.4(RET):c.2944C>T (p.Arg982Cys) rs17158558
NM_020975.4(RET):c.938G>A (p.Arg313Gln) rs77702891
NM_021098.2(CACNA1H):c.1853C>T (p.Pro618Leu) rs60734921
NM_021912.4(GABRB3):c.31C>T (p.Pro11Ser) rs25409
NM_022162.2(NOD2):c.2104C>T (p.Arg702Trp) rs2066844
NM_022162.2(NOD2):c.2555A>G (p.Asn852Ser) rs104895467
NM_022162.2(NOD2):c.2722G>C (p.Gly908Arg) rs2066845
NM_024296.4(CCDC28B):c.330C>T (p.Phe110=) rs41263993
NM_024642.4(GALNT12):c.3G>A (p.Met1Ile) rs267606839
NM_024675.3(PALB2):c.172_175delTTGT (p.Gln60Argfs) rs180177143
NM_024675.3(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132
NM_025074.6(FRAS1):c.9806G>A (p.Arg3269Gln) rs61729366
NM_030964.3(SPRY4):c.722C>A (p.Ser241Tyr) rs139512218
NM_138959.2(VANGL1):c.821G>A (p.Arg274Gln) rs121918219
NM_153704.5(TMEM67):c.958A>T (p.Ser320Cys) rs111619594
NM_172201.1(KCNE2):c.161T>C (p.Met54Thr) rs74315447
NM_178857.5(RP1L1):c.133C>T (p.Arg45Trp) rs267607017
NM_182919.3(TICAM1):c.557C>T (p.Ser186Leu) rs146550489
NM_198056.2(SCN5A):c.3308C>A (p.Ser1103Tyr) rs7626962
NM_198253.2(TERT):c.3184G>A (p.Ala1062Thr) rs35719940
NM_207034.2(EDN3):c.49G>A (p.Ala17Thr) rs11570255
NM_207361.5(FREM2):c.4031G>A (p.Arg1344His) rs143044921

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