ClinVar Miner

List of variants studied for bone development disease by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

Included ClinVar conditions (588):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_022356.4(P3H1):c.1080+1G>T rs72659351 0.00068
NM_001844.5(COL2A1):c.2659C>T (p.Arg887Ter) rs1399676515 0.00001
NM_020812.4(DOCK6):c.4203+2T>C rs1169546944 0.00001
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378 0.00001
NM_000088.4(COL1A1):c.958-1G>A rs72645352
NM_000141.5(FGFR2):c.1988G>A (p.Gly663Glu)
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000493.4(COL10A1):c.1945C>T (p.Gln649Ter)
NM_001024630.4(RUNX2):c.860-1G>A
NM_001174147.2(LMX1B):c.207dup (p.Arg70fs) rs2118823366
NM_001174147.2(LMX1B):c.722del (p.Ser241fs)
NM_001271938.2(MEGF8):c.3931G>T (p.Glu1311Ter)
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) rs121912893
NM_001844.5(COL2A1):c.2625+1del rs2136537220
NM_001844.5(COL2A1):c.3280C>T (p.Gln1094Ter) rs2136520087
NM_001844.5(COL2A1):c.610-2A>G
NM_004247.4(EFTUD2):c.2561+1G>A
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys) rs28937315
NM_004380.3(CREBBP):c.3940A>T (p.Lys1314Ter) rs2151354104
NM_004380.3(CREBBP):c.5961_5981delinsGCAT (p.Met1988fs) rs2151306905
NM_006494.4(ERF):c.939C>A (p.Tyr313Ter) rs1216061173
NM_006766.5(KAT6A):c.3898dup (p.Glu1300fs)
NM_006766.5(KAT6A):c.4861C>T (p.Gln1621Ter) rs2150855722
NM_021224.6(ZNF462):c.4180del (p.Trp1394fs)
NM_203486.3(DLL3):c.1272dup (p.Asp425fs)
NM_203486.3(DLL3):c.1312T>A (p.Cys438Ser)
NM_207037.2(TCF12):c.784C>T (p.Gln262Ter)

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