ClinVar Miner

List of variants reported as likely pathogenic for multiple congenital anomalies/dysmorphic syndrome-intellectual disability by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (406):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_139125.4(MASP1):c.1576C>T (p.Arg526Ter) rs377074720 0.00002
NM_001360.3(DHCR7):c.1085G>A (p.Arg362His) rs142213147 0.00001
NM_000193.4(SHH):c.833_836dup (p.Asp279fs)
NM_001080517.3(SETD5):c.1042C>T (p.Arg348Trp) rs1553621798
NM_001080517.3(SETD5):c.998_1010del (p.Gly333fs)
NM_001083961.2(WDR62):c.882+1G>T
NM_001083962.2(TCF4):c.1534G>T (p.Glu512Ter)
NM_001102401.4(TTI2):c.1115+2T>C
NM_001110792.2(MECP2):c.353G>A (p.Arg118Gln) rs61754457
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001197104.2(KMT2A):c.11206del (p.Gln3736fs)
NM_001197104.2(KMT2A):c.9917_9918insCTGT (p.Gln3307fs)
NM_001270.4(CHD1):c.490del (p.Ser164fs)
NM_001367561.1(DOCK7):c.4120-1G>T
NM_001367561.1(DOCK7):c.884del (p.Lys295fs)
NM_001374828.1(ARID1B):c.5276dup (p.Trp1760fs)
NM_001374828.1(ARID1B):c.951T>G (p.Tyr317Ter)
NM_001375380.1(EBF3):c.455G>C (p.Arg152Pro)
NM_001393530.1(MATN4):c.515G>C (p.Gly172Ala) rs730882210
NM_001904.4(CTNNB1):c.1803+2T>G
NM_002641.4(PIGA):c.356G>A (p.Arg119Gln)
NM_003482.4(KMT2D):c.11674C>T (p.Gln3892Ter)
NM_003482.4(KMT2D):c.13507C>T (p.Gln4503Ter)
NM_004214.5(FIBP):c.558_559del (p.Gly187fs)
NM_004214.5(FIBP):c.747del (p.His250fs)
NM_004247.4(EFTUD2):c.1292_1293del (p.Val431fs)
NM_004380.3(CREBBP):c.4471C>A (p.Gln1491Lys)
NM_007118.4(TRIO):c.2296del (p.Glu766fs)
NM_012414.4(RAB3GAP2):c.3645+1del
NM_013275.6(ANKRD11):c.3382_3383del (p.Asp1128fs)
NM_013275.6(ANKRD11):c.6295G>T (p.Glu2099Ter)
NM_014795.4(ZEB2):c.-69-2A>C
NM_015100.4(POGZ):c.2942_2945dup (p.Phe983fs)
NM_015107.3(PHF8):c.2656C>T (p.Gln886Ter)
NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs) rs766433101
NM_015937.6(PIGT):c.709G>C (p.Glu237Gln)
NM_016030.6(TRAPPC12):c.249_268del (p.Asp84fs)
NM_016343.4(CENPF):c.1026del (p.Glu342fs) rs1064795215
NM_018027.5(FRMD4A):c.110A>G (p.Gln37Arg)
NM_018027.5(FRMD4A):c.3078delinsCATTCT (p.Asp1027fs)
NM_019023.5(PRMT7):c.282+1G>A
NM_020314.7(VPS35L):c.938C>G (p.Ser313Ter)
NM_022552.5(DNMT3A):c.2598-1G>C
NM_024757.5(EHMT1):c.3036-1G>A
NM_030632.3(ASXL3):c.2047_2048insATAA (p.Ile683fs)
NM_031263.4(HNRNPK):c.886C>T (p.Arg296Ter)
NM_031483.7(ITCH):c.3G>A (p.Met1Ile)
NM_078480.3(PUF60):c.896T>A (p.Val299Glu)
NM_130466.4(UBE3B):c.630+1G>T
NM_133433.4(NIPBL):c.1708_1709del (p.Ile570fs)
NM_133433.4(NIPBL):c.7637T>C (p.Leu2546Pro) rs727503772
NM_152515.5(CKAP2L):c.1604G>A (p.Gly535Asp)
NM_152564.5(VPS13B):c.2247C>A (p.Cys749Ter)
NM_152564.5(VPS13B):c.5959C>T (p.Gln1987Ter)
NM_194318.4(B3GLCT):c.578G>A (p.Ser193Asn)
NM_198525.3(KIF7):c.2286_2287insT (p.Gln763fs) rs1963937785

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