List of variants reported as pathogenic for bone remodeling disease by Baylor Genetics

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 66

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HGVS	dbSNP	gnomAD frequency
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.1226C>T (p.Thr409Ile)	rs118204008	0.00004
NM_001177316.2(SLC34A3):c.304+2T>C	rs201293634	0.00004
NM_006019.4(TCIRG1):c.2236+1G>A	rs1475338876	0.00004
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)	rs765648513	0.00004
NM_006019.4(TCIRG1):c.1554+2T>A	rs761918801	0.00003
NM_000396.4(CTSK):c.121-1G>A	rs587663163	0.00002
NM_000396.4(CTSK):c.746T>C (p.Ile249Thr)	rs199919553	0.00002
NM_006019.4(TCIRG1):c.117+1G>A	rs377303800	0.00002
NM_006019.4(TCIRG1):c.1555-2A>C	rs758977199	0.00002
NM_000396.4(CTSK):c.136C>T (p.Arg46Trp)	rs371277428	0.00001
NM_000396.4(CTSK):c.436G>C (p.Gly146Arg)	rs74315302	0.00001
NM_000396.4(CTSK):c.894G>A (p.Trp298Ter)	rs1237746431	0.00001
NM_000396.4(CTSK):c.905G>A (p.Trp302Ter)	rs1571122183	0.00001
NM_000396.4(CTSK):c.926T>C (p.Leu309Pro)	rs29001685	0.00001
NM_001287.6(CLCN7):c.739-18G>A	rs371893553	0.00001
NM_006019.4(TCIRG1):c.-5+1G>T	rs917505107	0.00001
NM_006019.4(TCIRG1):c.1276C>T (p.Arg426Ter)	rs1489993984	0.00001
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter)	rs777785526	0.00001
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser)	rs200851583	0.00001
NM_006019.4(TCIRG1):c.196+5G>A	rs1470999303	0.00001
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter)	rs1338631330	0.00001
NM_006019.4(TCIRG1):c.630G>A (p.Thr210=)	rs1293760338	0.00001
NM_006019.4(TCIRG1):c.631-2A>C	rs1214876593	0.00001
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter)	rs749361897	0.00001
NM_207122.2(EXT2):c.67C>T (p.Arg23Ter)	rs754533434	0.00001
GRCh37/hg19 Xq23(chrX:113097589-114931342)
NC_000023.10:g.(113050826_113097589)_(114931342_114941807)del
NM_000067.3(CA2):c.232+1G>A	rs573750741
NM_000067.3(CA2):c.630_641delinsCACA (p.Leu211fs)
NM_000127.3(EXT1):c.963-2A>G	rs1554580162
NM_000396.4(CTSK):c.158dup (p.Asn53fs)	rs764168526
NM_000396.4(CTSK):c.236G>A (p.Gly79Glu)	rs74315305
NM_000396.4(CTSK):c.426del (p.Phe142fs)	rs1057516514
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter)	rs74315303
NM_000396.4(CTSK):c.737_738del (p.Ser246fs)
NM_000396.4(CTSK):c.830C>T (p.Ala277Val)	rs74315304
NM_000396.4(CTSK):c.934C>T (p.Arg312Ter)	rs375958814
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter)	rs137853271
NM_000444.6(PHEX):c.733-1G>C	rs886041223
NM_000785.4(CYP27B1):c.1286G>C (p.Arg429Pro)	rs568165874
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs)	rs780950819
NM_001287.6(CLCN7):c.2385_2386del (p.Gly796fs)	rs2142364275
NM_006019.4(TCIRG1):c.1037_1040dup (p.Val348fs)
NM_006019.4(TCIRG1):c.1114C>T (p.Gln372Ter)	rs776436008
NM_006019.4(TCIRG1):c.117+4A>T	rs751881962
NM_006019.4(TCIRG1):c.1230del (p.Leu411fs)	rs2134454279
NM_006019.4(TCIRG1):c.1348_1376dup (p.Phe459fs)	rs747511049
NM_006019.4(TCIRG1):c.1536C>A (p.Tyr512Ter)
NM_006019.4(TCIRG1):c.1674-1G>C
NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter)	rs1855655612
NM_006019.4(TCIRG1):c.1891del (p.Val631fs)	rs1300297240
NM_006019.4(TCIRG1):c.196+1G>T	rs2134432498
NM_006019.4(TCIRG1):c.2161_2163del (p.Ile721del)	rs780311417
NM_006019.4(TCIRG1):c.2218_2219del (p.Leu740fs)	rs1565164499
NM_006019.4(TCIRG1):c.2236C>T (p.Gln746Ter)	rs748659068
NM_006019.4(TCIRG1):c.2376_2379del (p.Glu792fs)
NM_006019.4(TCIRG1):c.2383_2384del (p.Ala796fs)	rs1346704603
NM_006019.4(TCIRG1):c.504-6C>A	rs1028394725
NM_006019.4(TCIRG1):c.630+2T>C	rs1392364437
NM_006019.4(TCIRG1):c.647G>A (p.Trp216Ter)
NM_006019.4(TCIRG1):c.688C>T (p.Gln230Ter)	rs1156299579
NM_006019.4(TCIRG1):c.797del (p.Glu266fs)	rs1431956318

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