ClinVar Miner

List of variants reported as likely pathogenic for bone remodeling disease by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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_000444.6(PHEX):c.1529G>C (p.Arg510Pro) rs915608304
NM_000444.6(PHEX):c.176G>C (p.Cys59Ser) rs1602244810
NM_001177316.2(SLC34A3):c.1274C>T (p.Thr425Ile) rs1060499697
NM_001177316.2(SLC34A3):c.1386C>G (p.Tyr462Ter) rs777986863
NM_001177316.2(SLC34A3):c.560+27_561-38del rs746082077

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