ClinVar Miner

List of variants reported as likely pathogenic for multiple congenital anomalies/dysmorphic syndrome-intellectual disability by Daryl Scott Lab, Baylor College of Medicine

Included ClinVar conditions (406):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_004278.4(PIGL):c.660+1G>T rs768198327 0.00002
NM_000965.5(RARB):c.638T>C (p.Leu213Pro) rs869025222
NM_001101.5(ACTB):c.629G>A (p.Arg210His) rs1064793444
NM_001197104.2(KMT2A):c.3460C>T (p.Arg1154Trp) rs1555038090
NM_001904.4(CTNNB1):c.1043C>T (p.Ser348Phe)
NM_003072.5(SMARCA4):c.2453G>A (p.Trp818Ter) rs2146359668
NM_003072.5(SMARCA4):c.2656A>G (p.Met886Val) rs2146416371
NM_003072.5(SMARCA4):c.2738C>T (p.Pro913Leu) rs778175819
NM_003482.4(KMT2D):c.1967del (p.Leu656fs) rs772870804
NM_006908.5(RAC1):c.198A>T (p.Arg66Ser) rs1783105291
NM_015100.4(POGZ):c.2849dup (p.Val951fs) rs1653560615
NM_133433.4(NIPBL):c.6527T>C (p.Leu2176Pro) rs1561207924

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