ClinVar Miner

List of variants reported as pathogenic for bone remodeling disease by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro) rs61495246 0.00107
NM_006019.4(TCIRG1):c.1674-1G>A rs139617644 0.00019
NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter) rs371263807 0.00010
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr) rs762780994 0.00008
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg) rs137853150 0.00007
NM_000785.4(CYP27B1):c.262del (p.Val88fs) rs387906260 0.00004
NM_006019.4(TCIRG1):c.1554+2T>A rs761918801 0.00003
NM_000396.4(CTSK):c.136C>T (p.Arg46Trp) rs371277428 0.00001
NM_000067.3(CA2):c.610G>T (p.Glu204Ter)
NM_000444.6(PHEX):c.118+1G>A rs1131691731
NM_000444.6(PHEX):c.1808G>A (p.Trp603Ter)
NM_000444.6(PHEX):c.1927_1928del (p.Asn643fs)
NM_006019.4(TCIRG1):c.1114C>T (p.Gln372Ter) rs776436008
NM_006019.4(TCIRG1):c.504-6C>A rs1028394725
NM_020638.3(FGF23):c.536G>A (p.Arg179Gln) rs193922702

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