ClinVar Miner

List of variants studied for bone development disease by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (588):
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ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_002427.4(MMP13):c.619T>G (p.Trp207Gly) rs140059558 0.00005
NM_006907.4(PYCR1):c.866A>G (p.Lys289Arg) rs34575645 0.00005
NM_001286577.2(C2CD3):c.4658G>A (p.Arg1553Gln) rs542660333 0.00002
NM_000557.5(GDF5):c.1081C>T (p.Arg361Cys) rs758630897 0.00001
NM_001457.4(FLNB):c.871G>A (p.Val291Met) rs751747906 0.00001
NM_005529.7(HSPG2):c.11671+1G>T rs1373848573 0.00001
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000493.4(COL10A1):c.1771T>G (p.Cys591Gly) rs111033546
NM_001024630.4(RUNX2):c.368G>A (p.Cys123Tyr) rs1582095105
NM_001031725.6(DDX59):c.1100T>G (p.Val367Gly) rs587777067
NM_001031725.6(DDX59):c.1648AAT[2] (p.Asn552del) rs1571603072
NM_001286577.2(C2CD3):c.195G>C (p.Trp65Cys) rs1590991247
NM_001369268.1(ACAN):c.5546G>A (p.Gly1849Asp) rs34124958
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser) rs121912880
NM_002181.4(IHH):c.352G>A (p.Val118Met) rs1454141074
NM_002181.4(IHH):c.53_78delinsGGGCC (p.Leu18_Trp26delinsArgAla) rs1574689480
NM_003394.4(WNT10B):c.338-1G>C rs1163162816
NM_004273.5(CHST3):c.503T>G (p.Ile168Ser) rs1589509307
NM_004380.3(CREBBP):c.7311G>T (p.Lys2437Asn) rs895608889
NM_004793.4(LONP1):c.889G>A (p.Val297Met) rs1599470758
NM_004836.7(EIF2AK3):c.1538del (p.Lys513fs) rs1674719462
NM_005430.4(WNT1):c.1090C>G (p.Arg364Gly) rs1435433748
NM_006031.6(PCNT):c.658G>T (p.Glu220Ter) rs119479061
NM_006766.5(KAT6A):c.2218del (p.Arg740fs) rs1587723169
NM_015425.6(POLR1A):c.253C>T (p.Leu85Phe) rs1558788291
NM_018010.4(IFT57):c.585+3A>G rs1560127636
NM_019074.4(DLL4):c.1392C>A (p.Cys464Ter) rs1596194950
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_021224.6(ZNF462):c.6671_6672insG (p.Asp2224fs) rs1588136019
NM_022167.4(XYLT2):c.520del (p.Ala174fs) rs797044807
NM_022356.4(P3H1):c.2174_2177del (p.Leu725fs) rs1570452214
NM_022356.4(P3H1):c.570_571del (p.Gly191fs) rs1553143741
NM_152281.3(GORAB):c.231dup (p.Pro78fs) rs1571243797
NM_198239.2(CCN6):c.246del (p.Glu84fs) rs797044438
NM_198239.2(CCN6):c.648G>T (p.Trp216Cys) rs781860587
NM_207037.2(TCF12):c.1035+5G>A rs878853094

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