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: 30
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HGVS dbSNP
NM_000138.4(FBN1):c.3217G>A (p.Glu1073Lys) rs137854478
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000252.2(MTM1):c.676C>A (p.Pro226Thr) rs587783848
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000267.3(NF1):c.1393-2A>G rs1555612266
NM_000267.3(NF1):c.4168C>T (p.Leu1390Phe) rs199474789
NM_000267.3(NF1):c.4173A>T (p.Arg1391Ser) rs137854554
NM_000267.3(NF1):c.6858+1G>A rs1060500355
NM_000267.3(NF1):c.7846C>T (p.Arg2616Ter) rs786201367
NM_000335.4(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964
NM_000492.3(CFTR):c.1373del (p.Gly458fs) rs397508196
NM_000552.4(VWF):c.4115T>G (p.Ile1372Ser) rs61750070
NM_000552.4(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386
NM_001039523.3(CHRNA1):c.1396G>A (p.Gly466Arg) rs768407867
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_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_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del) rs886042840
NM_004006.3(DMD):c.1812+1G>A rs373286166
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) rs766665118
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) rs77503355
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_181798.1(KCNQ1):c.1321G>A (p.Gly441Arg) rs199472807

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