ClinVar Miner

List of variants reported as likely pathogenic for bone disorder by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NR_023343.3(RNU4ATAC):n.8C>T rs370715569 0.00025
NM_001177316.2(SLC34A3):c.1304del (p.Ser435fs) rs771816857 0.00019
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00013
NM_001177316.2(SLC34A3):c.304+2T>C rs201293634 0.00005
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu) rs568132506 0.00004
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000493.4(COL10A1):c.772C>T (p.Arg258Ter) rs765628474 0.00003
NM_000512.5(GALNS):c.938C>T (p.Thr313Met) rs894525161 0.00002
NM_000199.5(SGSH):c.267C>A (p.Tyr89Ter) rs1479456289 0.00001
NM_000523.4(HOXD13):c.916C>T (p.Arg306Trp) rs28933082 0.00001
NM_005445.4(SMC3):c.707G>A (p.Arg236His) rs587784429 0.00001
NM_006031.6(PCNT):c.3465-1G>A rs755084205 0.00001
NM_019023.5(PRMT7):c.820C>T (p.Arg274Ter) rs372375423 0.00001
GRCh37/hg19 16p13.3(chr16:1568167-1570859)x3
NM_000088.4(COL1A1):c.1461+2T>G rs1907417140
NM_000088.4(COL1A1):c.3128G>C (p.Gly1043Ala) rs1906767501
NM_000088.4(COL1A1):c.3360del (p.Gly1121fs) rs1260429820
NM_000088.4(COL1A1):c.3769del (p.Arg1257fs) rs1906559620
NM_000088.4(COL1A1):c.904-1G>C rs1907593112
NM_000112.4(SLC26A2):c.1994dup (p.His665fs) rs2113699563
NM_000112.4(SLC26A2):c.235C>T (p.Gln79Ter) rs1755020578
NM_000127.3(EXT1):c.398del (p.Asn133fs) rs2488052150
NM_000127.3(EXT1):c.70G>T (p.Gly24Ter) rs1817893036
NM_000444.6(PHEX):c.1382C>A (p.Thr461Lys) rs374873766
NM_000444.6(PHEX):c.2070+601C>T
NM_000444.6(PHEX):c.2156G>C (p.Gly719Ala) rs2518713623
NM_000451.4(SHOX):c.349C>T (p.Gln117Ter) rs2052711401
NM_000493.4(COL10A1):c.1955_1956dup (p.Gln653fs) rs1779066131
NM_000512.5(GALNS):c.143T>G (p.Val48Gly) rs191519947
NM_000516.7(GNAS):c.470_472del (p.Glu157del) rs2146209517
NM_000516.7(GNAS):c.878A>G (p.Lys293Arg) rs2517269338
NM_001024630.4(RUNX2):c.211C>T (p.Gln71Ter) rs774631263
NM_001024630.4(RUNX2):c.569G>A (p.Arg190Gln) rs1057521068
NM_001024630.4(RUNX2):c.571A>G (p.Ser191Gly) rs2548589285
NM_001104631.2(PDE4D):c.569C>T (p.Ser190Phe) rs1751144333
NM_001110556.2(FLNA):c.4726G>T (p.Gly1576Trp)
NM_001174147.2(LMX1B):c.797G>C (p.Trp266Ser) rs2030220818
NM_001369268.1(ACAN):c.221dup (p.Trp75fs) rs1896573269
NM_001374353.1(GLI2):c.3625C>T (p.Arg1209Ter) rs1683184865
NM_001429.4(EP300):c.3135_3138del (p.Lys1046fs) rs2059051273
NM_001659.3(ARF3):c.277G>A (p.Asp93Asn) rs2498893389
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=) rs367806541
NM_001853.4(COL9A3):c.1486G>C (p.Gly496Arg)
NM_002085.5(GPX4):c.502-1del rs1555716575
NM_002334.4(LRP4):c.1894C>T (p.Arg632Cys) rs1941393359
NM_002334.4(LRP4):c.3472C>T (p.Arg1158Trp) rs886048351
NM_002335.4(LRP5):c.724G>A (p.Ala242Thr) rs121908670
NM_002609.4(PDGFRB):c.2567A>T (p.Asn856Ile)
NM_002653.5(PITX1):c.87del (p.Ala30fs) rs2149562896
NM_003995.4(NPR2):c.2266C>T (p.Gln756Ter) rs1828368702
NM_004247.4(EFTUD2):c.2815dup (p.Arg939fs)
NM_004247.4:c.(350+1_351-1)_(492+1_493-1)del
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr) rs1596839714
NM_004380.3(CREBBP):c.4991G>T (p.Arg1664Leu) rs1596791996
NM_004380.3(CREBBP):c.5158T>C (p.Cys1720Arg) rs2051906390
NM_004429.5(EFNB1):c.128+1G>C rs2147973177
NM_004456.5(EZH2):c.472C>T (p.His158Tyr) rs2129476891
NM_005445.4(SMC3):c.3007C>T (p.Arg1003Cys) rs1861395935
NM_006031.6(PCNT):c.5443C>T (p.Gln1815Ter) rs750764149
NM_006031.6:c.(6921+1_6922-1)_(7024+1_7025-1)del
NM_006306.4(SMC1A):c.2611C>T (p.Gln871Ter) rs2075652085
NM_006766.5(KAT6A):c.4070del (p.Gln1357fs) rs1821721248
NM_012200.4(B3GAT3):c.986C>G (p.Ser329Ter) rs2134426262
NM_014754.3(PTDSS1):c.284G>A (p.Arg95Gln) rs1131691429
NM_015631.6(TCTN3):c.1A>G (p.Met1Val) rs1046385111
NM_020436.5(SALL4):c.131-2del rs1568866374
NM_020791.4(TAOK1):c.1303C>T (p.Arg435Ter) rs2153028697
NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile) rs121912633
NM_022552.5(DNMT3A):c.855+1G>A rs772041639
NM_022552.5(DNMT3A):c.890G>A (p.Trp297Ter) rs944608317
NM_032228.6(FAR1):c.495_507delinsT (p.Glu165_Pro169delinsAsp) rs727502796
NM_080425.4(GNAS):c.754_761del (p.Ser252fs) rs2086303843
NM_153717.3(EVC):c.801+1G>T rs1447653524

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