ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Centogene AG - the Rare Disease Company and "likely benign" from any submitter

Minimum review status of the submission from Centogene AG - the Rare Disease Company: Collection method of the submission from Centogene AG - the Rare Disease Company:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_000484.3(APP):c.-626C>T rs139885956 0.00230
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys) rs141868117 0.00150
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr) rs202195978 0.00088
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp) rs140929639 0.00056
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu) rs56127440 0.00035
NM_012179.4(FBXO7):c.277T>G (p.Ser93Ala) rs143041875 0.00032
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_001848.3(COL6A1):c.1684A>G (p.Ile562Val) rs374315921 0.00007
NM_000527.5(LDLR):c.1078G>C (p.Asp360His) rs777926251 0.00004
NM_001849.4(COL6A2):c.2153G>A (p.Ser718Asn) rs368641951 0.00004
NM_000548.5(TSC2):c.2701C>T (p.Arg901Cys) rs796053512 0.00001
NM_000059.4(BRCA2):c.6225A>C (p.Lys2075Asn) rs80358863
NM_000368.5(TSC1):c.938C>T (p.Ser313Phe) rs766317920
NM_003482.4(KMT2D):c.8032G>C (p.Glu2678Gln)

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