ClinVar Miner

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

Included ClinVar conditions (588):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NR_023343.3(RNU4ATAC):n.8C>T rs370715569 0.00025
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_000493.4(COL10A1):c.772C>T (p.Arg258Ter) rs765628474 0.00003
NM_006031.6(PCNT):c.3465-1G>A rs755084205 0.00002
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_000493.4(COL10A1):c.1955_1956dup (p.Gln653fs) rs1779066131
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)
NM_001104631.2(PDE4D):c.569C>T (p.Ser190Phe) rs1751144333
NM_001174147.2(LMX1B):c.797G>C (p.Trp266Ser) rs2030220818
NM_001374353.1(GLI2):c.3625C>T (p.Arg1209Ter) rs1683184865
NM_001429.4(EP300):c.3135_3138del (p.Lys1046fs) rs2059051273
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=) rs367806541
NM_001853.4(COL9A3):c.1486G>C (p.Gly496Arg)
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_006031.6(PCNT):c.5443C>T (p.Gln1815Ter) rs750764149
NM_006031.6:c.(6921+1_6922-1)_(7024+1_7025-1)del
NM_006766.5(KAT6A):c.4070del (p.Gln1357fs) rs1821721248
NM_015631.6(TCTN3):c.1A>G (p.Met1Val)
NM_020436.5(SALL4):c.131-2del rs1568866374
NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile) rs121912633
NM_153717.3(EVC):c.801+1G>T

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