ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen and "uncertain significance" from any submitter

Minimum review status of the submission from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen: Collection method of the submission from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen:
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ClinVar version:
Total variants with conflicting interpretations: 55
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_016233.2(PADI3):c.881C>T (p.Ala294Val) rs144080386 0.00620
NM_000939.4(POMC):c.706C>G (p.Arg236Gly) rs28932472 0.00286
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346 0.00168
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr) rs120074114 0.00071
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000237.3(LPL):c.286G>C (p.Val96Leu) rs373088068 0.00013
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val) rs397508556 0.00011
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val) rs199473625 0.00007
NM_000419.5(ITGA2B):c.3060+2T>C rs74664206 0.00004
NM_000432.4(MYL2):c.403-1G>C rs199474813 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534 0.00002
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) rs41293511 0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 0.00001
NM_000257.4(MYH7):c.1633G>A (p.Asp545Asn) rs564101364 0.00001
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro) rs193922570 0.00001
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502 0.00001
NM_007294.4(BRCA1):c.212+3A>G rs80358083 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.2995C>T (p.Gln999Ter) rs75239284
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.635_636del (p.Arg212fs) rs80359575
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.8754+5G>A rs81002813
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000257.4(MYH7):c.2863G>A (p.Asp955Asn) rs886039204
NM_000363.5(TNNI3):c.626A>C (p.Glu209Ala) rs730881083
NM_000432.4(MYL2):c.483C>A (p.His161Gln) rs886039108
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_001018005.2(TPM1):c.602C>T (p.Thr201Met) rs730881141
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001276345.2(TNNT2):c.844C>T (p.Gln282Ter) rs796925245
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_005477.3(HCN4):c.1471G>A (p.Asp491Asn) rs1060500107
NM_007294.4(BRCA1):c.134+3A>C rs80358064
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_007294.4(BRCA1):c.5406+5G>A rs80358073
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu) rs778849441

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