ClinVar Miner

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

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_005592.4(MUSK):c.308A>G (p.Asn103Ser) rs551423795 0.00001
NM_014489.4(PGAP2):c.881C>T (p.Thr294Met) rs747658866 0.00001
NM_001031710.3(KLHL7):c.618+1G>A rs1554289078
NM_001198800.3(ASCC1):c.157dup (p.Glu53fs) rs753324947
NM_001429.4(EP300):c.4232C>T (p.Thr1411Ile) rs1601633708
NM_001429.4(EP300):c.4452+5G>T rs1555911334
NM_004380.3(CREBBP):c.3495_3575del (p.Trp1165_Val1192delinsCys) rs1596853925
NM_004380.3(CREBBP):c.3623dup (p.Gln1209fs) rs2052611239
NM_004380.3(CREBBP):c.4436_4438del (p.Gly1479del) rs1555473122
NM_004380.3(CREBBP):c.5482_5484del (p.Tyr1828del) rs1596787459
NM_005445.4(SMC3):c.2952_2954del (p.Lys985del) rs1590571077
NM_005450.6(NOG):c.554C>G (p.Ser185Cys) rs2145567535
NM_005592.4(MUSK):c.2357G>A (p.Trp786Ter) rs1554757237
NM_017988.6(SCYL2):c.176dup (p.Glu60fs) rs2135832798
NM_017988.6(SCYL2):c.97del (p.Asp33fs) rs2135832560
NM_133433.4(NIPBL):c.3425dup (p.Gly1143fs) rs1554020579
NM_182895.5(SCARF2):c.3G>A (p.Met1Ile)
Single allele

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