ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Institute of Human Genetics, University of Leipzig Medical Center and "likely pathogenic" from any submitter

Minimum review status of the submission from Institute of Human Genetics, University of Leipzig Medical Center: Collection method of the submission from Institute of Human Genetics, University of Leipzig Medical Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 73
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548 0.00090
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile) rs58639322 0.00060
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442 0.00039
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 0.00029
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr) rs142773283 0.00019
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter) rs943680446 0.00016
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val) rs140873167 0.00006
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) rs121918169 0.00005
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys) rs587781813 0.00004
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_153704.6(TMEM67):c.651+2T>G rs199821258 0.00003
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_000051.4(ATM):c.5144T>C (p.Leu1715Pro) rs747800057 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn) rs369521395 0.00001
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser) rs397508727 0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val) rs397508763 0.00001
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr) rs730882099 0.00001
NM_000527.5(LDLR):c.1966C>A (p.His656Asn) rs762815611 0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337 0.00001
NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln) rs752742151 0.00001
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017 0.00001
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
NM_000435.3(NOTCH3):c.3782G>A (p.Cys1261Tyr)
NM_000478.6(ALPL):c.1331A>G (p.Gln444Arg) rs1644752699
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro) rs1554382664
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe) rs397508520
NM_000492.4(CFTR):c.523A>G (p.Ile175Val) rs397508744
NM_000492.4(CFTR):c.567C>A (p.Asn189Lys) rs397508755
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val) rs752951310
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000834.5(GRIN2B):c.3332G>A (p.Arg1111His) rs876661167
NM_001032221.6(STXBP1):c.125CCT[1] (p.Ser43del) rs796053381
NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu) rs1898841618
NM_001160372.4(TRAPPC9):c.239T>C (p.Leu80Pro) rs2132705299
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe) rs1690574155
NM_001330260.2(SCN8A):c.2706del (p.Glu903fs) rs2138862858
NM_001330260.2(SCN8A):c.5620G>C (p.Val1874Leu) rs781602116
NM_001370259.2(MEN1):c.1185+1G>A rs1941661315
NM_001377142.1(PLCB4):c.1223T>C (p.Phe408Ser) rs2148407785
NM_001395656.1(ROBO2):c.292G>T (p.Gly98Trp) rs2071367863
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg) rs959316981
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter) rs886037963
NM_006772.3(SYNGAP1):c.3583-6G>A rs869312674
NM_007194.4(CHEK2):c.1461+5G>A rs769841229
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr) rs786203192
NM_014225.6(PPP2R1A):c.275C>T (p.Pro92Leu) rs950558629
NM_015076.5(CDK19):c.594G>C (p.Trp198Cys) rs1779473213
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) rs1554504681
NM_015275.3(WASHC4):c.3041A>G (p.Tyr1014Cys) rs768574664
NM_016628.5(WAC):c.381+4_381+7del rs1564400647
NM_032043.3(BRIP1):c.93+4_93+7del rs1224034842
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln) rs1331463984
NM_177550.5(SLC13A5):c.369-2A>G rs1973796030
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg) rs145844329
NM_198514.4(NHLRC2):c.1A>G (p.Met1Val) rs2134678958
NM_205768.3(ZBTB18):c.1307G>A (p.Arg436His) rs1572531765

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