ClinVar Miner

List of variants studied for bone development disease by Kids Neuroscience Centre, Sydney Children's Hospitals Network

Included ClinVar conditions (588):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001142784.3(IL11RA):c.475C>T (p.Gln159Ter) rs387906787 0.00006
NM_001142784.3(IL11RA):c.810G>A (p.Thr270=) rs1258408605 0.00003
NM_005529.7(HSPG2):c.4955+3A>T rs769130391 0.00003
NM_005816.5(CD96):c.544-1477_544-1459del rs2107579299
NM_207037.2(TCF12):c.1261-3C>G rs2152019791

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