ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Institute of Human Genetics, University of Leipzig Medical Center and "uncertain significance" 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: 66
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met) rs779248881 0.00037
NM_000542.5(SFTPB):c.361C>G (p.Pro121Ala) rs141905538 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter) rs56381858 0.00017
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_015087.5(SPART):c.364_365del (p.Met122fs) rs775736341 0.00009
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750 0.00004
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile) rs397508293 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_004531.5(MOCS2):c.226G>A (p.Gly76Arg) rs780085174 0.00004
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00003
NM_003680.4(YARS1):c.1099C>T (p.Arg367Trp) rs376054085 0.00003
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224 0.00001
NM_001673.5(ASNS):c.1439C>T (p.Ser480Phe) rs754043007 0.00001
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647 0.00001
NM_003738.5(PTCH2):c.1296_1300del (p.Val433fs) rs781171287 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237 0.00001
NM_206933.4(USH2A):c.6926G>T (p.Cys2309Phe) rs748983904 0.00001
NC_012920.1:m.9185T>C rs199476138
NM_000033.4(ABCD1):c.479T>C (p.Leu160Pro) rs2091707324
NM_000052.7(ATP7A):c.1782C>G (p.Tyr594Ter) rs797045336
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys) rs775836288
NM_000492.4(CFTR):c.1860T>G (p.His620Gln) rs397508315
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn) rs200955612
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000836.4(GRIN2D):c.2008C>T (p.Leu670Phe) rs1600982189
NM_001004334.4(GPR179):c.984del (p.Ser329fs) rs770066665
NM_001042492.3(NF1):c.3448T>C (p.Ser1150Pro) rs2067137547
NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer) rs781843758
NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu) rs61748391
NM_001114753.3(ENG):c.8G>A (p.Arg3His) rs1588604597
NM_001321075.3(DLG4):c.1478+4_1478+19del rs2142830394
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln) rs397509412
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003289.4(TPM2):c.463G>A (p.Ala155Thr) rs1563929039
NM_003718.5(CDK13):c.484dup (p.Ala162fs) rs1405252481
NM_003738.5(PTCH2):c.1296_1305delinsCACCA (p.Val433fs) rs1573648653
NM_006565.4(CTCF):c.1024C>T (p.Arg342Cys) rs1131691283
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) rs80357064
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_018426.3(TMEM63B):c.130G>A (p.Val44Met)
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_152564.5(VPS13B):c.5908+2dup rs587777381
NM_198880.3(QRICH1):c.2216G>A (p.Trp739Ter) rs2106802170
Single allele
UGT1A1*28 rs3064744

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