ClinVar Miner

List of variants reported as pathogenic for congenital limb malformation by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys) rs121918502
NM_000474.4(TWIST1):c.397A>T (p.Lys133Ter) rs1585617015
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His) rs587777450
NM_001429.4(EP300):c.3166C>T (p.Gln1056Ter) rs1601623271
NM_004247.4(EFTUD2):c.1297_1298del (p.Met433fs) rs797045551
NM_004380.3(CREBBP):c.1108C>T (p.Arg370Ter) rs1384496494
NM_004380.3(CREBBP):c.6324C>G (p.Tyr2108Ter) rs199821421
NM_006265.3(RAD21):c.208A>T (p.Lys70Ter) rs1554612093
NM_014489.4(PGAP2):c.391G>T (p.Glu131Ter) rs1590414630
NM_018486.3(HDAC8):c.787C>T (p.Gln263Ter) rs886041838
NM_020812.4(DOCK6):c.705C>G (p.Tyr235Ter) rs1555697020
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_033419.5(PGAP3):c.280del (p.Trp94fs) rs1555610292
NM_033419.5(PGAP3):c.75_81dup (p.Val28Ter) rs2057593272
NM_033419.5(PGAP3):c.845A>G (p.Asp282Gly) rs869312814
NM_133433.4(NIPBL):c.1320del (p.Asn440fs) rs1580373035
NM_133433.4(NIPBL):c.3060_3063del (p.Glu1021fs) rs587783914
NM_133433.4(NIPBL):c.7327C>T (p.Gln2443Ter) rs80358370

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