ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital and "likely benign" from any submitter

Minimum review status of the submission from Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital: Collection method of the submission from Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 46
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HGVS dbSNP gnomAD frequency
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871 0.00774
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_006079.5(CITED2):c.479A>T (p.His160Leu) rs111814036 0.00211
NM_000306.4(POU1F1):c.370A>G (p.Met124Val) rs143373007 0.00183
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln) rs115961753 0.00156
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846 0.00148
NM_016729.3(FOLR1):c.493+2T>C rs144637717 0.00134
NM_001080.3(ALDH5A1):c.13A>G (p.Ile5Val) rs200398000 0.00096
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00089
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446 0.00074
NM_003865.3(HESX1):c.385G>A (p.Val129Ile) rs143057250 0.00064
NM_000426.4(LAMA2):c.6128A>G (p.Gln2043Arg) rs144155507 0.00063
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_001035.3(RYR2):c.8209-3A>G rs376788358 0.00047
NM_004415.4(DSP):c.2683T>C (p.Tyr895His) rs375891215 0.00043
NM_000815.5(GABRD):c.775G>A (p.Val259Ile) rs148908731 0.00042
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met) rs199793620 0.00034
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val) rs201490050 0.00032
NM_144573.4(NEXN):c.242A>T (p.Asp81Val) rs367871780 0.00028
NM_001191061.2(SLC25A22):c.679G>A (p.Val227Met) rs200603610 0.00024
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895 0.00023
NM_014000.3(VCL):c.787A>T (p.Thr263Ser) rs142233726 0.00022
NM_001267550.2(TTN):c.93244G>A (p.Glu31082Lys) rs199663613 0.00020
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln) rs149278000 0.00020
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys) rs148041292 0.00015
NM_001378120.1(MBD5):c.3678G>C (p.Gln1226His) rs148321416 0.00015
NM_005912.2(MC4R):c.110A>T (p.Asp37Val) rs13447325 0.00013
NM_001105206.3(LAMA4):c.5270C>T (p.Pro1757Leu) rs200177134 0.00012
NM_001148.6(ANK2):c.1673T>C (p.Leu558Ser) rs139199018 0.00011
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318 0.00006
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805 0.00006
NM_001378120.1(MBD5):c.4970C>A (p.Pro1657His) rs775673512 0.00004
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591 0.00003
NM_001148.6(ANK2):c.7136C>A (p.Thr2379Lys) rs753351853 0.00003
NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=) rs141695705 0.00003
NM_001378120.1(MBD5):c.2789A>C (p.Gln930Pro) rs564759063 0.00002
NM_000348.4(SRD5A2):c.446-10_446-8del rs758063160
NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del) rs755655903
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000529.2(MC2R):c.80C>G (p.Pro27Arg) rs28926178
NM_001126049.2(KLLN):c.-1007C>G rs587780001
NM_003060.4(SLC22A5):c.592G>T (p.Val198Leu) rs757979350
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237

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