ClinVar Miner

List of variants reported as pathogenic for developmental defect during embryogenesis by Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital

Included ClinVar conditions (2031):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) rs199422227
NM_001042492.3(NF1):c.1639G>T (p.Glu547Ter) rs2066877587
NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg) rs876658853
NM_001042492.3(NF1):c.503C>G (p.Ser168Ter) rs1131691994
NM_001042492.3(NF1):c.61-2A>C rs1131691100
NM_001042492.3(NF1):c.7194C>G (p.Tyr2398Ter) rs2070073649
NM_001080517.3(SETD5):c.1702_1703insT (p.Ser568fs) rs2042123799
NM_001197104.2(KMT2A):c.8767_8768del (p.Gln2923fs) rs1950551811
NM_001374828.1(ARID1B):c.7052C>G (p.Ser2351Ter) rs1794583960
NM_001854.4(COL11A1):c.3816+1G>A rs398122828
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_003849.4(SUCLG1):c.[460C>T;987dup]
NM_006565.4(CTCF):c.329dup (p.Gly111fs) rs2052056650
NM_006662.3(SRCAP):c.7189G>T (p.Glu2397Ter) rs2053169420
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006912.6(RIT1):c.270G>C (p.Met90Ile) rs483352822
NM_006939.4(SOS2):c.800T>A (p.Met267Lys) rs797045167
NM_013275.6(ANKRD11):c.3309del (p.Asp1104fs) rs772267579
NM_013275.6(ANKRD11):c.4750G>T (p.Glu1584Ter) rs2034272227
NM_014780.5(CUL7):c.[2164C>T;4911dup]
NM_014780.5(CUL7):c.[3129G>A;4763T>C]
NM_015311.3(OBSL1):c.[1273dup;836G>A]
NM_022455.5(NSD1):c.5509+1G>A rs1757808917
NM_024312.5(GNPTAB):c.[2715+1G>A;2980_2983del]
NM_152564.5(VPS13B):c.[1044G>A;8916G>A]
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter) rs750777752
NM_203475.3(PORCN):c.49_80del (p.Cys17fs) rs2061661681

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