ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Centre for Mendelian Genomics, University Medical Centre Ljubljana and "pathogenic" from any submitter

Minimum review status of the submission from Centre for Mendelian Genomics, University Medical Centre Ljubljana: Collection method of the submission from Centre for Mendelian Genomics, University Medical Centre Ljubljana:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 56
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HGVS dbSNP gnomAD frequency
NM_213647.3(FGFR4):c.1162G>A (p.Gly388Arg) rs351855 0.26099
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val) rs35077384 0.02717
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_024921.4(POF1B):c.986G>A (p.Arg329Gln) rs75398746 0.00354
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099 0.00351
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_000327.4(ROM1):c.339dup (p.Leu114fs) rs71458427 0.00033
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016 0.00030
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00029
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln) rs56679084 0.00027
NM_001202.6(BMP4):c.272C>G (p.Ser91Cys) rs121912767 0.00018
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) rs200311463 0.00012
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805 0.00009
NM_032620.4(GTPBP3):c.964G>C (p.Ala322Pro) rs372174278 0.00009
NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp) rs121918619 0.00006
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) rs374434303 0.00006
NM_001273.5(CHD4):c.4822G>A (p.Val1608Ile) rs201992075 0.00005
NM_020247.5(COQ8A):c.812G>A (p.Arg271His) rs765859566 0.00003
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243 0.00002
NM_000257.4(MYH7):c.5342G>A (p.Arg1781His) rs397516246 0.00002
NM_001012720.2(RGR):c.196A>C (p.Ser66Arg) rs104894187 0.00002
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339 0.00001
NM_000091.5(COL4A3):c.765G>A (p.Thr255=) rs869025328 0.00001
NM_000153.4(GALC):c.1898C>T (p.Thr633Met) rs766762599 0.00001
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys) rs780351691 0.00001
NM_000270.4(PNP):c.265G>A (p.Glu89Lys) rs104894453 0.00001
NM_001077653.2(TBX20):c.456C>G (p.Ile152Met) rs137852954 0.00001
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) rs121912683 0.00001
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154 0.00001
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val) rs773881370 0.00001
NC_012920.1:m.9185T>C rs199476138
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys) rs775836288
NM_000465.4(BARD1):c.1538T>G (p.Leu513Ter) rs2106076340
NM_000782.5(CYP24A1):c.1315C>T (p.Arg439Cys) rs374292194
NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser) rs757713617
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu) rs369638371
NM_001372.4(DNAH9):c.308dup (p.Leu104fs) rs769795916
NM_001946.4(DUSP6):c.229T>A (p.Phe77Ile) rs587776978
NM_003718.5(CDK13):c.484dup (p.Ala162fs) rs1405252481
NM_005909.5(MAP1B):c.3316C>T (p.Arg1106Ter) rs1554055106
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_144666.3(DNHD1):c.10717G>T (p.Glu3573Ter) rs763743788
NM_144773.4(PROKR2):c.58del (p.His20fs) rs587777834
NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs) rs1057517753
NM_198252.3(GSN):c.1585G>A (p.Glu529Lys) rs2063220897

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