ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital and "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:
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Total variants with conflicting interpretations: 19
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HGVS dbSNP gnomAD frequency
NM_005912.3(MC4R):c.307G>A (p.Val103Ile) rs2229616 0.01533
NM_000348.4(SRD5A2):c.*43G>A rs28383082 0.00951
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635 0.00204
NM_000306.4(POU1F1):c.370A>G (p.Met124Val) rs143373007 0.00183
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904 0.00175
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846 0.00148
NM_016729.3(FOLR1):c.493+2T>C rs144637717 0.00134
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_001035.3(RYR2):c.8209-3A>G rs376788358 0.00047
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln) rs149278000 0.00020
NM_002230.4(JUP):c.352G>A (p.Glu118Lys) rs149004293 0.00011
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318 0.00006
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_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237

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