ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Laboratory of Medical Genetics, National & Kapodistrian University of Athens and "uncertain significance" from any submitter

Minimum review status of the submission from Laboratory of Medical Genetics, National & Kapodistrian University of Athens: Collection method of the submission from Laboratory of Medical Genetics, National & Kapodistrian University of Athens:
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Total variants with conflicting interpretations: 19
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HGVS dbSNP gnomAD frequency
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser) rs776989258 0.00047
NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu) rs138768918 0.00029
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp) rs864622269 0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237 0.00001
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) rs72554645
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000083.3(CLCN1):c.771T>A (p.Tyr257Ter) rs1802495428
NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp) rs1555398512
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000232.5(SGCB):c.87_89del (p.Arg30del) rs780654411
NM_001165963.4(SCN1A):c.1060G>C (p.Ala354Pro) rs1698022280
NM_001320.7(CSNK2B):c.467G>A (p.Gly156Asp) rs2151188873
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228

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