ClinVar Miner

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

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

Total variants with conflicting interpretations: 82

HGVS dbSNP
Multiple alleles
NM_000038.5(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000051.3(ATM):c.7271T>G (p.Val2424Gly) rs28904921
NM_000075.3(CDK4):c.70C>T (p.Arg24Cys) rs11547328
NM_000075.3(CDK4):c.71G>A (p.Arg24His) rs104894340
NM_000077.4(CDKN2A):c.167G>T (p.Ser56Ile) rs104894109
NM_000077.4(CDKN2A):c.176T>G (p.Val59Gly) rs104894099
NM_000077.4(CDKN2A):c.238C>T (p.Arg80Ter) rs121913388
NM_000077.4(CDKN2A):c.266G>A (p.Gly89Asp) rs137854599
NM_000077.4(CDKN2A):c.71G>C (p.Arg24Pro) rs104894097
NM_000157.3(GBA):c.1448T>C rs421016
NM_000209.3(PDX1):c.226G>A (p.Asp76Asn) rs137852783
NM_000209.3(PDX1):c.52T>C (p.Cys18Arg) rs137852785
NM_000218.2(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854
NM_000219.5(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000238.3(KCNH2):c.2350C>T (p.Arg784Trp) rs12720441
NM_000248.3(MITF):c.952G>A (p.Glu318Lys) rs149617956
NM_000350.2(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000372.4(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000540.2(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.2(RYR1):c.1840C>T (p.Arg614Cys) rs118192172
NM_000540.2(RYR1):c.6488G>A (p.Arg2163His) rs118192163
NM_000540.2(RYR1):c.6617C>T (p.Thr2206Met) rs118192177
NM_000540.2(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397
NM_000552.4(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386
NM_000816.3(GABRG2):c.245G>A (p.Arg82Gln) rs121909673
NM_001005741.2(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_001110792.1(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001195132.1(CDKN2A):c.9_32dup (p.Pro11_Ser12insAlaAlaGlySerSerMetGluPro) rs587780668
NM_001199397.1(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197
NM_001256071.2(RNF213):c.12037G>A (p.Asp4013Asn) rs397514563
NM_001256071.2(RNF213):c.14429G>A (p.Arg4810Lys) rs112735431
NM_001256849.1(POLD1):c.1421T>C (p.Leu474Pro) rs587777627
NM_001256849.1(POLD1):c.1433G>A (p.Ser478Asn) rs397514632
NM_001982.3(ERBB3):c.4009G>A (p.Ala1337Thr) rs755855285
NM_002386.3(MC1R):c.252C>A (p.Asp84Glu) rs1805006
NM_003647.2(DGKE):c.32C>A (p.Ser11Ter) rs148605410
NM_003647.2(DGKE):c.486dupA (p.Val163Serfs) rs312262699
NM_003647.2(DGKE):c.818G>C (p.Arg273Pro) rs312262695
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter) rs138924661
NM_004304.4(ALK):c.3383G>C (p.Gly1128Ala) rs113994088
NM_004304.4(ALK):c.3575G>C (p.Arg1192Pro) rs113994089
NM_004304.4(ALK):c.3824G>A (p.Arg1275Gln) rs113994087
NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) rs77375493
NM_005085.4(NUP214):c.112C>T (p.Arg38Cys)
NM_006361.5(HOXB13):c.251G>A (p.Gly84Glu) rs138213197
NM_006516.3(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006914.3(RORB):c.1249_1251delACG (p.Thr417del) rs869312972
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007272.2(CTRC):c.760C>T (p.Arg254Trp) rs121909293
NM_012186.2(FOXE3):c.410G>A (p.Gly137Asp) rs749960549
NM_012186.2(FOXE3):c.457G>C (p.Asp153His) rs367943249
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_014625.3(NPHS2):c.686G>A (p.Arg229Gln) rs61747728
NM_014625.3(NPHS2):c.868G>A (p.Val290Met) rs200482683
NM_015074.3(KIF1B):c.3649C>T (p.Pro1217Ser) rs121908163
NM_016335.4(PRODH):c.1322T>C (p.Leu441Pro) rs2904551
NM_016335.4(PRODH):c.1397C>T (p.Thr466Met) rs2870984
NM_017849.3(TMEM127):c.149_150insA (p.Pro51Alafs) rs121908817
NM_017849.3(TMEM127):c.245-1G>T rs121908821
NM_017849.3(TMEM127):c.410-2A>C rs121908826
NM_017849.3(TMEM127):c.475C>T (p.Gln159Ter) rs121908830
NM_020937.3(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911
NM_020975.5(RET):c.95C>T (p.Ser32Leu) rs76764689
NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu) rs121909641
NM_023110.2(FGFR1):c.1864C>T (p.Arg622Ter) rs121909628
NM_024675.3(PALB2):c.172_175delTTGT (p.Gln60Argfs) rs180177143
NM_024675.3(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132
NM_024675.3(PALB2):c.3116delA (p.Asn1039Ilefs) rs180177133
NM_024675.3(PALB2):c.3256C>T (p.Arg1086Ter) rs587776527
NM_024675.3(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998
NM_032638.4(GATA2):c.1061C>T (p.Thr354Met) rs387906631
NM_058216.2(RAD51C):c.414G>C (p.Leu138Phe) rs267606999
NM_058216.2(RAD51C):c.904+5G>T rs587782702
NM_172201.1(KCNE2):c.161T>C (p.Met54Thr) rs74315447
NM_178857.5(RP1L1):c.133C>T (p.Arg45Trp) rs267607017
NM_181840.1(KCNK18):c.414_415delCT (p.Phe139Trpfs) rs869025175
PALB2:c.2515-1G>T rs587776417

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