ClinVar Miner

List of variants reported as pathogenic for bone disorder by Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_004608.4(TBX6):c.356G>A (p.Arg119His) rs200175825 0.00007
NM_000095.3(COMP):c.1153G>T (p.Asp385Tyr) rs1601054715
NM_000127.3(EXT1):c.1019G>A (p.Arg340His) rs119103287
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) rs199422227
NM_000444.6(PHEX):c.58C>T (p.Arg20Ter) rs770573978
NM_000444.6(PHEX):c.613del (p.Arg205fs) rs1929214770
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter) rs866429868
NM_001369268.1(ACAN):c.1861A>T (p.Lys621Ter) rs1896882552
NM_001369268.1(ACAN):c.1880_1883dup (p.Asp629fs) rs1896883106
NM_001854.4(COL11A1):c.3816+1G>A rs398122828
NM_004608.4(TBX6):c.418C>T (p.Leu140Phe) rs1596853085
NM_004608.4(TBX6):c.473_475dup (p.Trp158_Glu159insGly) rs1596852902
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]

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