ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen and "benign" 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: 41
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val) rs116005007 0.00425
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) rs147551003 0.00280
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00244
NM_000428.3(LTBP2):c.2668G>A (p.Glu890Lys) rs141783623 0.00235
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_002693.3(POLG):c.1174C>G (p.Leu392Val) rs145289229 0.00194
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu) rs35641267 0.00163
NM_006214.4(PHYH):c.356C>T (p.Thr119Met) rs34571629 0.00155
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn) rs146366996 0.00147
NM_017654.4(SAMD9):c.4724G>A (p.Gly1575Glu) rs148724199 0.00129
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu) rs56355310 0.00095
NM_001017995.3(SH3PXD2B):c.814G>A (p.Ala272Thr) rs201224113 0.00087
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr) rs63750043 0.00076
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) rs1805031 0.00074
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg) rs200594798 0.00073
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr) rs201144431 0.00071
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756 0.00069
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp) rs148046938 0.00063
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr) rs35698242 0.00063
NM_002661.5(PLCG2):c.2393A>G (p.Asn798Ser) rs117077093 0.00061
NM_001205293.3(CACNA1E):c.6470G>A (p.Arg2157Gln) rs2480373 0.00055
NM_000094.4(COL7A1):c.5572G>A (p.Glu1858Lys) rs147633212 0.00050
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_001394062.1(MACF1):c.15226C>G (p.Leu5076Val) rs144367111 0.00025
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_001458.5(FLNC):c.1166G>A (p.Gly389Asp) rs763039506 0.00016
NM_002230.4(JUP):c.1982G>A (p.Arg661Gln) rs555499592 0.00008
NM_002230.4(JUP):c.56C>T (p.Thr19Ile) rs570878629 0.00007
NM_000256.3(MYBPC3):c.2761C>G (p.Gln921Glu) rs367729718 0.00006
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val) rs143900944 0.00006
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val) rs372331627 0.00003
NM_001267550.2(TTN):c.7758A>G (p.Ile2586Met) rs556000493 0.00001
NM_000421.5(KRT10):c.1457_1458insAAGCT (p.His487fs) rs762667965
NM_001267550.2(TTN):c.4289C>A (p.Ala1430Glu) rs577298130
NM_001332.4(CTNND2):c.1480G>A (p.Gly494Ser) rs34001856
NM_001371928.1(AHDC1):c.3234_3242del (p.Thr1079_Ala1081del) rs754444655
NM_012179.4(FBXO7):c.1546G>C (p.Asp516His) rs34316445
NM_030787.4(CFHR5):c.485_486dup (p.Glu163fs) rs565457964

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