ClinVar Miner

List of variants reported as likely pathogenic for bone disorder by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00342
NM_016008.4(DYNC2LI1):c.16C>T (p.Leu6Phe) rs146698690 0.00271
NM_006907.4(PYCR1):c.866A>G (p.Lys289Arg) rs34575645 0.00005
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln) rs776814144 0.00004
NM_032040.5(CCDC8):c.963del (p.Ala323fs) rs746873023 0.00004
NM_000308.4(CTSA):c.601-2A>G rs778159802 0.00003
NM_005529.7(HSPG2):c.11671+1G>T rs1373848573 0.00001
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105 0.00001
NM_022095.4(ZNF335):c.3158C>T (p.Pro1053Leu) rs768092083 0.00001
NM_000404.4(GLB1):c.950G>A (p.Trp317Ter) rs1575451526
NM_000493.4(COL10A1):c.1771T>G (p.Cys591Gly) rs111033546
NM_000512.5(GALNS):c.423-862C>T rs1597575641
NM_001017420.3(ESCO2):c.116dup (p.Asn39fs) rs1585389705
NM_001031725.6(DDX59):c.1648AAT[2] (p.Asn552del) rs1571603072
NM_002181.4(IHH):c.352G>A (p.Val118Met) rs1454141074
NM_003394.4(WNT10B):c.338-1G>C rs1163162816
NM_004423.4(DVL3):c.1715-1G>C rs869025217
NM_004836.7(EIF2AK3):c.1538del (p.Lys513fs) rs1674719462
NM_006031.6(PCNT):c.658G>T (p.Glu220Ter) rs119479061
NM_006766.5(KAT6A):c.2218del (p.Arg740fs) rs1587723169
NM_015922.3(NSDHL):c.317C>T (p.Ser106Leu) rs1602937895
NM_016648.4(LARP7):c.427del (p.Arg143fs) rs1560929898
NM_018010.4(IFT57):c.585+3A>G rs1560127636
NM_018486.3(HDAC8):c.859T>C (p.Cys287Arg) rs1602975122
NM_019074.4(DLL4):c.1392C>A (p.Cys464Ter) rs1596194950
NM_021224.6(ZNF462):c.6671_6672insG (p.Asp2224fs) rs1588136019
NM_022356.4(P3H1):c.570_571del (p.Gly191fs) rs1553143741
NM_032228.6(FAR1):c.772G>A (p.Gly258Arg) rs1591268116
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro) rs886041401
NM_133433.4(NIPBL):c.4173_4174del (p.Cys1391_Asp1392delinsTer) rs1747566758
NM_145331.3(MAP3K7):c.608-1G>A rs1180249151

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