ClinVar Miner

List of variants reported as pathogenic for congenital limb malformation by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_001198800.3(ASCC1):c.583C>T (p.Gln195Ter) rs769501930 0.00001
NM_002472.3(MYH8):c.2021G>A (p.Arg674Gln) rs121434590 0.00001
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_001429.4(EP300):c.2333dup (p.Asn779fs) rs2145736063
NM_003282.4(TNNI2):c.525G>T (p.Lys175Asn) rs797046046
NM_004247.4(EFTUD2):c.509_519del (p.Ile170fs)
NM_004380.3(CREBBP):c.4251C>G (p.Tyr1417Ter)
NM_004380.3(CREBBP):c.5683C>T (p.Gln1895Ter)
NM_004380.3(CREBBP):c.6005_6006del (p.Val2002fs)
NM_006265.3(RAD21):c.1635del (p.Gly547fs)
NM_006306.4(SMC1A):c.511C>T (p.Arg171Ter)
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs) rs80357819
NM_018486.3(HDAC8):c.134_137del (p.Ile45fs) rs797045610
NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp) rs137962226
NM_020436.5(SALL4):c.2252del (p.Asn751fs)
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) rs121909627
NM_133433.4(NIPBL):c.188C>A (p.Ser63Ter) rs1740845459
NM_133433.4(NIPBL):c.3316C>T (p.Arg1106Ter) rs2149668942
NM_133433.4(NIPBL):c.6892C>T (p.Arg2298Cys) rs80358376
NM_133433.4(NIPBL):c.7150C>T (p.Gln2384Ter) rs1057516034
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_133433.4(NIPBL):c.793_794insTTCC (p.Arg265fs) rs2149621638
NM_133433.4(NIPBL):c.8326dup (p.Ile2776fs) rs1157335847
NM_181486.4(TBX5):c.105del (p.Ser36fs) rs1057516042
NM_181789.4(GLDN):c.980_981del (p.Ser327fs) rs755420151

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