ClinVar Miner

List of variants reported as pathogenic for bone remodeling disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00129
NM_006019.4(TCIRG1):c.1674-1G>A rs139617644 0.00019
NM_000444.6(PHEX):c.1645+1G>A rs886041225
NM_000444.6(PHEX):c.2071-1G>A rs886041374
NM_152424.4(AMER1):c.877del (p.Lys292_Val293insTer)

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