ClinVar Miner

List of variants reported as likely pathogenic for congenital limb malformation by Centogene AG - the Rare Disease Company

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001198800.3(ASCC1):c.583C>T (p.Gln195Ter) rs769501930 0.00001
NM_001378183.1(PIEZO2):c.8555C>T (p.Ser2852Leu) rs2033776473
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.4(EP300):c.3067del (p.Glu1022_Ile1023insTer) rs2059050708
NM_001429.4(EP300):c.3733del (p.Val1245fs)
NM_003282.4(TNNI2):c.520C>T (p.Arg174Trp) rs1589797083
NM_005199.5(CHRNG):c.351-9T>C rs764382582
NM_005431.2(XRCC2):c.350dup (p.Leu117fs) rs764640893
NM_018684.4(ZC4H2):c.174_178del (p.Glu58fs) rs2147349682
NM_019074.4(DLL4):c.1392C>A (p.Cys464Ter) rs1596194950
NM_022725.4(FANCF):c.817_820del (p.Val273fs) rs1858619779
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr) rs759541820
NM_139284.3(LGI4):c.1272C>A (p.Cys424Ter) rs2065136111
NM_139284.3(LGI4):c.263_265del (p.Phe88del) rs2065190797
NM_181789.4(GLDN):c.1028-2A>T rs2038250738

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