ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Genetic Services Laboratory, University of Chicago and "pathogenic" from any submitter

Minimum review status of the submission from Genetic Services Laboratory, University of Chicago: Collection method of the submission from Genetic Services Laboratory, University of Chicago:
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ClinVar version:
Total variants with conflicting interpretations: 67
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HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394 0.00532
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_002711.4(PPP1R3A):c.1985_1986del (p.Gln662fs) rs527638422 0.00279
NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr) rs111294855 0.00212
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_000372.5(TYR):c.665T>C (p.Ile222Thr) rs34878847 0.00096
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) rs144567652 0.00088
NM_017721.5(CC2D1A):c.2657G>A (p.Arg886His) rs201921029 0.00072
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00071
NM_017563.5(IL17RD):c.392A>C (p.Lys131Thr) rs184758350 0.00063
NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met) rs144938364 0.00056
NM_016180.5(SLC45A2):c.1518C>T (p.Val506=) rs150473213 0.00034
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500 0.00032
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys) rs147875659 0.00022
NM_000275.3(OCA2):c.1239+5G>C rs757119713 0.00016
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs) rs782339984 0.00015
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188 0.00014
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591 0.00011
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619 0.00010
NM_001083961.2(WDR62):c.1043+3A>G rs587784541 0.00009
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile) rs376478015 0.00009
NM_000047.3(ARSL):c.36G>C (p.Arg12Ser) rs122460151 0.00004
NM_001197104.2(KMT2A):c.10835+1G>C rs141515578 0.00004
NM_017654.4(SAMD9):c.3381C>A (p.Tyr1127Ter) rs572380130 0.00003
NM_020461.4(TUBGCP6):c.2066-6A>G rs368765755 0.00003
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_001128126.3(AP4S1):c.295-3C>A rs185246578 0.00002
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224 0.00002
NM_020944.3(GBA2):c.515G>A (p.Arg172His) rs200268523 0.00002
NM_000275.3(OCA2):c.1045-9T>G rs755604671 0.00001
NM_000275.3(OCA2):c.573+5G>A rs1432628513 0.00001
NM_000352.6(ABCC8):c.1183A>T (p.Ile395Phe) rs542947894 0.00001
NM_000540.3(RYR1):c.8026C>T (p.Arg2676Trp) rs193922826 0.00001
NM_001080.3(ALDH5A1):c.608C>T (p.Pro203Leu) rs906284769 0.00001
NM_015450.3(POT1):c.233T>C (p.Ile78Thr) rs947005337 0.00001
NM_018062.4(FANCL):c.2T>C (p.Met1Thr) rs761291501 0.00001
NM_058216.3(RAD51C):c.458G>A (p.Gly153Asp) rs765730332 0.00001
NM_000252.3(MTM1):c.1353G>A (p.Gln451=) rs587783781
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp) rs559581937
NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile) rs1057519004
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001069.3(TUBB2A):c.1163T>C (p.Met388Thr) rs1554122911
NM_001070.5(TUBG1):c.776C>T (p.Ser259Leu) rs1555631383
NM_001160372.4(TRAPPC9):c.3225C>A (p.Tyr1075Ter) rs58740567
NM_001184880.2(PCDH19):c.370G>C (p.Asp124His) rs796052797
NM_001197104.2(KMT2A):c.3461G>A (p.Arg1154Gln) rs1131691799
NM_001276270.2(MBD4):c.939dup (p.Glu314fs) rs558765093
NM_001283009.2(RTEL1):c.901_919+72del rs1569090870
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001349338.3(FOXP1):c.1652+5G>A rs794727216
NM_001353108.3(CEP63):c.989_992del (p.Asp330fs) rs797045459
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln) rs713993043
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_004523.4(KIF11):c.2922G>A (p.Pro974=)
NM_006009.4(TUBA1A):c.53A>G (p.Asn18Ser) rs1064795213
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_020247.5(COQ8A):c.1805C>G (p.Pro602Arg) rs61995958
NM_024426.6(WT1):c.1349A>G (p.His450Arg) rs1851851609
NM_024426.6(WT1):c.1354+5G>A rs2132919246
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp) rs1057520538
NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His) rs587784020
NM_144773.4(PROKR2):c.58del (p.His20fs) rs587777834
NM_198904.4(GABRG2):c.1334G>T (p.Arg445Leu) rs587780341

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