ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Institute of Human Genetics, University of Leipzig Medical Center and "benign" 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: 54
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HGVS dbSNP gnomAD frequency
NM_004998.4(MYO1E):c.332+8G>A rs4508371 0.97982
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813 0.46716
NM_014625.4(NPHS2):c.725C>T (p.Ala242Val) rs61747727 0.02224
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_004646.4(NPHS1):c.59-5C>G rs114595892 0.01945
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu) rs74315344 0.00425
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly) rs121909046 0.00335
NM_004525.3(LRP2):c.10937G>A (p.Arg3646His) rs142549310 0.00298
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293 0.00291
NM_000939.4(POMC):c.706C>G (p.Arg236Gly) rs28932472 0.00286
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_000492.4(CFTR):c.2620-15C>G rs139379077 0.00212
NM_002941.4(ROBO1):c.2204G>A (p.Ser735Asn) rs34515208 0.00193
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00104
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) rs71428908 0.00081
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684 0.00061
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492 0.00059
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 0.00040
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala) rs104886164 0.00034
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958 0.00029
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn) rs773242093 0.00029
NM_000492.4(CFTR):c.3963+69A>G rs540577876 0.00019
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met) rs147112322 0.00016
NM_000489.6(ATRX):c.1648A>G (p.Ser550Gly) rs201284965 0.00015
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu) rs199594809 0.00006
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) rs28897691 0.00006
NM_024757.5(EHMT1):c.149C>T (p.Ala50Val) rs143155406 0.00006
NM_001134407.3(GRIN2A):c.2966A>G (p.Asn989Ser) rs531782747 0.00005
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_000492.4(CFTR):c.164+12T>C rs121908790 0.00001
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu) rs397508607 0.00001
NM_000527.5(LDLR):c.1966C>A (p.His656Asn) rs762815611 0.00001
NM_000548.5(TSC2):c.2521G>A (p.Val841Ile) rs549612492 0.00001
NM_001347721.2(DYRK1A):c.649C>T (p.Arg217Cys) rs1462221945 0.00001
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_001351132.2(PEX5):c.147+77_147+121del
NM_007294.4(BRCA1):c.3415AGT[1] (p.Ser1140del) rs80358337

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