ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital and "likely pathogenic" 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: 47
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg) rs368386747 0.00009
NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln) rs9332967 0.00009
NM_000552.5(VWF):c.4115T>G (p.Ile1372Ser) rs61750070 0.00004
NM_004006.3(DMD):c.1812+1G>A rs373286166 0.00003
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) rs766665118 0.00003
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp) rs121434246 0.00002
NM_000529.2(MC2R):c.634del (p.Arg212fs) rs1226345778 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_000163.5(GHR):c.508G>C (p.Asp170His) rs121909366 0.00001
NM_001182.5(ALDH7A1):c.312+1G>A rs199497486 0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352 0.00001
NM_000044.6(AR):c.2086G>A (p.Asp696Asn) rs1555995840
NM_000044.6(AR):c.2567G>A (p.Arg856His) rs9332971
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys) rs137854478
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg) rs199472807
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.676C>A (p.Pro226Thr) rs587783848
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000335.5(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000492.4(CFTR):c.1373del (p.Gly458fs) rs397508196
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000891.3(KCNJ2):c.913A>G (p.Thr305Ala) rs199473387
NM_001042492.3(NF1):c.1393-2A>G rs1555612266
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe) rs199474789
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser) rs137854554
NM_001042492.3(NF1):c.6001G>A (p.Gly2001Arg) rs199474751
NM_001042492.3(NF1):c.6921+1G>A rs1060500355
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001354712.2(THRB):c.803C>G (p.Ala268Gly) rs750905761
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del) rs886042840
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) rs77503355
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832

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