ClinVar Miner

List of variants studied for bone remodeling disease by Baylor Genetics

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 235
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln) rs41282065 0.00267
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro) rs61495246 0.00107
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163 0.00077
NM_004252.5(NHERF1):c.657C>G (p.Ile219Met) rs147104235 0.00047
NM_031471.6(FERMT3):c.608C>T (p.Pro203Leu) rs78534353 0.00036
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_207122.2(EXT2):c.1685G>A (p.Arg562Gln) rs140561784 0.00008
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg) rs137853150 0.00007
NM_006019.4(TCIRG1):c.1331G>T (p.Arg444Leu) rs137853151 0.00006
NM_207122.2(EXT2):c.749G>A (p.Arg250Gln) rs770821909 0.00005
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.1549G>A (p.Asp517Asn) rs369264588 0.00004
NM_006019.4(TCIRG1):c.2236+1G>A rs1475338876 0.00004
NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp) rs145903120 0.00004
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter) rs765648513 0.00004
NM_207122.2(EXT2):c.973C>T (p.Arg325Trp) rs145611597 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.1066G>A (p.Asp356Asn) rs372701023 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_207122.2(EXT2):c.1043A>G (p.Tyr348Cys) rs758785296 0.00002
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter) rs772690312 0.00002
NM_000067.3(CA2):c.311G>T (p.Gly104Val) rs760867064 0.00001
NM_000396.4(CTSK):c.136C>T (p.Arg46Trp) rs371277428 0.00001
NM_000396.4(CTSK):c.364C>T (p.Arg122Ter) rs759107967 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_002335.4(LRP5):c.1021G>A (p.Glu341Lys) rs184945579 0.00001
NM_003839.4(TNFRSF11A):c.866C>T (p.Thr289Ile) rs749136654 0.00001
NM_006019.4(TCIRG1):c.-5+1G>T rs917505107 0.00001
NM_006019.4(TCIRG1):c.1021-1G>T rs1590807544 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.787C>T (p.Gln263Ter) rs1003722483 0.00001
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter) rs749361897 0.00001
NM_031471.6(FERMT3):c.568C>G (p.Gln190Glu) rs777178622 0.00001
NM_207122.2(EXT2):c.1305+2T>C rs202153611 0.00001
NM_207122.2(EXT2):c.1515C>G (p.Ile505Met) rs145279140 0.00001
NM_207122.2(EXT2):c.1712A>G (p.His571Arg) rs150392363 0.00001
NM_207122.2(EXT2):c.1921A>C (p.Lys641Gln) rs773705067 0.00001
NM_207122.2(EXT2):c.266C>T (p.Thr89Met) rs143048174 0.00001
NM_207122.2(EXT2):c.415G>A (p.Asp139Asn) rs1038984851 0.00001
NM_207122.2(EXT2):c.511G>A (p.Ala171Thr) rs1326355711 0.00001
NM_207122.2(EXT2):c.640G>A (p.Gly214Ser) rs550761834 0.00001
NM_207122.2(EXT2):c.656C>T (p.Thr219Met) rs202208526 0.00001
NM_207122.2(EXT2):c.667C>T (p.Arg223Trp) rs201062014 0.00001
NM_207122.2(EXT2):c.67C>T (p.Arg23Ter) rs754533434 0.00001
NM_207122.2(EXT2):c.974G>A (p.Arg325Gln) rs762292898 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_000088.4(COL1A1):c.3122C>T (p.Pro1041Leu) rs1906769403
NM_000088.4(COL1A1):c.3207+3A>G rs1906755287
NM_000088.4(COL1A1):c.3398G>A (p.Gly1133Glu) rs1906659084
NM_000127.3(EXT1):c.197T>C (p.Val66Ala) rs1242925512
NM_000127.3(EXT1):c.963-2A>G rs1554580162
NM_000396.4(CTSK):c.119del (p.Lys40fs)
NM_000396.4(CTSK):c.158dup (p.Asn53fs) rs764168526
NM_000396.4(CTSK):c.169_170del (p.Ile57fs)
NM_000396.4(CTSK):c.190_200del (p.Ala64fs) rs760640027
NM_000396.4(CTSK):c.236G>A (p.Gly79Glu) rs74315305
NM_000396.4(CTSK):c.239_243+1del
NM_000396.4(CTSK):c.244-29A>G rs1654085401
NM_000396.4(CTSK):c.26T>C (p.Leu9Pro) rs1057517252
NM_000396.4(CTSK):c.395dup (p.Asn132fs) rs1057516725
NM_000396.4(CTSK):c.419G>A (p.Trp140Ter) rs2101951671
NM_000396.4(CTSK):c.581del (p.Gly194fs)
NM_000396.4(CTSK):c.590_591del (p.Asp196_Ser197insTer)
NM_000396.4(CTSK):c.679_680insAA (p.Ile227fs) rs758450569
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter) rs74315303
NM_000396.4(CTSK):c.724_731del (p.Val242fs)
NM_000396.4(CTSK):c.737_738del (p.Ser246fs)
NM_000396.4(CTSK):c.746T>A (p.Ile249Asn) rs199919553
NM_000396.4(CTSK):c.78G>A (p.Trp26Ter)
NM_000396.4(CTSK):c.818del (p.Asn273fs)
NM_000396.4(CTSK):c.830C>T (p.Ala277Val) rs74315304
NM_000396.4(CTSK):c.947_948del (p.Asn316fs)
NM_000396.4(CTSK):c.9del (p.Leu4fs)
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter) rs137853271
NM_000444.6(PHEX):c.1966-1G>T rs1064795147
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_001127898.4(CLCN5):c.941C>A (p.Ser314Ter) rs151340626
NM_001287.6(CLCN7):c.2385_2386del (p.Gly796fs) rs2142364275
NM_001287.6(CLCN7):c.436_438del (p.Ile146del)
NM_002335.4(LRP5):c.1384C>T (p.Arg462Ter) rs1200833757
NM_002546.4(TNFRSF11B):c.97G>A (p.Glu33Lys) rs202090603
NM_005032.7(PLS3):c.234_237+10del rs781875935
NM_005032.7(PLS3):c.583-3C>A rs2147551714
NM_006019.4(TCIRG1):c.1019C>A (p.Ser340Ter)
NM_006019.4(TCIRG1):c.1020+1G>T
NM_006019.4(TCIRG1):c.1037_1040dup (p.Val348fs)
NM_006019.4(TCIRG1):c.1080_1081del (p.Leu361fs)
NM_006019.4(TCIRG1):c.1114C>T (p.Gln372Ter) rs776436008
NM_006019.4(TCIRG1):c.1118del (p.Gly373fs) rs1269558164
NM_006019.4(TCIRG1):c.1128del (p.Asp376fs)
NM_006019.4(TCIRG1):c.117+4A>C rs751881962
NM_006019.4(TCIRG1):c.117+4A>T rs751881962
NM_006019.4(TCIRG1):c.117+5G>A rs2134430922
NM_006019.4(TCIRG1):c.1230del (p.Leu411fs) rs2134454279
NM_006019.4(TCIRG1):c.1306-2A>T rs1855570841
NM_006019.4(TCIRG1):c.1348_1376dup (p.Phe459fs) rs747511049
NM_006019.4(TCIRG1):c.1378del (p.Ile460fs)
NM_006019.4(TCIRG1):c.1387G>T (p.Glu463Ter)
NM_006019.4(TCIRG1):c.1421C>T (p.Ser474Leu) rs199914625
NM_006019.4(TCIRG1):c.1460G>A (p.Trp487Ter)
NM_006019.4(TCIRG1):c.1480C>T (p.Gln494Ter)
NM_006019.4(TCIRG1):c.1536C>A (p.Tyr512Ter)
NM_006019.4(TCIRG1):c.1554+1G>A
NM_006019.4(TCIRG1):c.1554+1G>T rs1439348400
NM_006019.4(TCIRG1):c.1664_1667dup (p.His557fs)
NM_006019.4(TCIRG1):c.1673+2T>C
NM_006019.4(TCIRG1):c.1674-1G>C
NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter) rs1855655612
NM_006019.4(TCIRG1):c.1782T>A (p.Cys594Ter)
NM_006019.4(TCIRG1):c.1887+1G>A
NM_006019.4(TCIRG1):c.1887+1G>C rs1554999205
NM_006019.4(TCIRG1):c.1888-1G>T rs2134462513
NM_006019.4(TCIRG1):c.1891del (p.Val631fs) rs1300297240
NM_006019.4(TCIRG1):c.196+1G>T rs2134432498
NM_006019.4(TCIRG1):c.1967del (p.Leu656fs)
NM_006019.4(TCIRG1):c.2088dup (p.Gly697fs)
NM_006019.4(TCIRG1):c.2146C>T (p.Gln716Ter)
NM_006019.4(TCIRG1):c.2161_2163del (p.Ile721del) rs780311417
NM_006019.4(TCIRG1):c.2196del (p.Ser733fs)
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.2321del (p.Val774fs)
NM_006019.4(TCIRG1):c.2324C>G (p.Pro775Arg)
NM_006019.4(TCIRG1):c.2329_2387dup (p.Ala796_Phe797insLeuProProLeuProTer)
NM_006019.4(TCIRG1):c.2376_2379del (p.Glu792fs)
NM_006019.4(TCIRG1):c.2377G>C (p.Gly793Arg)
NM_006019.4(TCIRG1):c.2383_2384del (p.Ala796fs) rs1346704603
NM_006019.4(TCIRG1):c.2414+1G>T
NM_006019.4(TCIRG1):c.2415-2A>G rs1555000376
NM_006019.4(TCIRG1):c.242del (p.Pro81fs) rs1208311085
NM_006019.4(TCIRG1):c.245del (p.Pro82fs)
NM_006019.4(TCIRG1):c.304del (p.Glu102fs)
NM_006019.4(TCIRG1):c.361C>T (p.Gln121Ter)
NM_006019.4(TCIRG1):c.376C>T (p.Gln126Ter) rs903939170
NM_006019.4(TCIRG1):c.390del (p.Val131fs)
NM_006019.4(TCIRG1):c.418-1G>C
NM_006019.4(TCIRG1):c.418-21A>G rs1855249165
NM_006019.4(TCIRG1):c.446C>G (p.Ser149Ter)
NM_006019.4(TCIRG1):c.455_457delinsGG (p.Thr152fs)
NM_006019.4(TCIRG1):c.503+5G>A
NM_006019.4(TCIRG1):c.504-6C>A rs1028394725
NM_006019.4(TCIRG1):c.507_513del (p.Phe169fs)
NM_006019.4(TCIRG1):c.523G>T (p.Glu175Ter) rs2134437954
NM_006019.4(TCIRG1):c.557_570del (p.Leu186fs) rs1554995522
NM_006019.4(TCIRG1):c.630+2T>C rs1392364437
NM_006019.4(TCIRG1):c.647G>A (p.Trp216Ter)
NM_006019.4(TCIRG1):c.745C>T (p.Gln249Ter)
NM_006019.4(TCIRG1):c.772C>T (p.Gln258Ter)
NM_006019.4(TCIRG1):c.797del (p.Glu266fs) rs1431956318
NM_006019.4(TCIRG1):c.807+1G>A
NM_006019.4(TCIRG1):c.807+1G>T rs1458295257
NM_006019.4(TCIRG1):c.808-2A>C
NM_006019.4(TCIRG1):c.824_825del (p.Glu275fs) rs1182235762
NM_006019.4(TCIRG1):c.898A>T (p.Lys300Ter)
NM_006019.4(TCIRG1):c.907dup (p.Tyr303fs) rs1855347940
NM_006019.4(TCIRG1):c.968G>A (p.Trp323Ter)
NM_006019.4(TCIRG1):c.971dup (p.Cys324fs) rs1565156743
NM_152424.4(AMER1):c.1305C>G (p.Gly435=) rs761740157
NM_152424.4(AMER1):c.1575_1590del (p.Tyr526fs)
NM_152424.4(AMER1):c.2363G>A (p.Cys788Tyr) rs1269339307
NM_152424.4(AMER1):c.3328T>A (p.Ser1110Thr) rs1930205301
NM_152424.4(AMER1):c.71C>T (p.Thr24Ile) rs1930297677
NM_207122.2(EXT2):c.1016G>C (p.Cys339Ser)
NM_207122.2(EXT2):c.1018G>A (p.Val340Ile)
NM_207122.2(EXT2):c.1072T>C (p.Trp358Arg)
NM_207122.2(EXT2):c.1145A>G (p.Gln382Arg)
NM_207122.2(EXT2):c.1223T>C (p.Leu408Pro)
NM_207122.2(EXT2):c.1226C>G (p.Ala409Gly) rs1279920600
NM_207122.2(EXT2):c.1285T>G (p.Trp429Gly)
NM_207122.2(EXT2):c.1330C>T (p.Leu444Phe)
NM_207122.2(EXT2):c.140C>T (p.Pro47Leu)
NM_207122.2(EXT2):c.1411C>T (p.Arg471Trp)
NM_207122.2(EXT2):c.1448C>T (p.Ser483Phe)
NM_207122.2(EXT2):c.1454T>C (p.Leu485Pro)
NM_207122.2(EXT2):c.1462G>A (p.Val488Ile)
NM_207122.2(EXT2):c.1462G>T (p.Val488Phe)
NM_207122.2(EXT2):c.148A>G (p.Ile50Val)
NM_207122.2(EXT2):c.1496-1G>C
NM_207122.2(EXT2):c.1522C>T (p.Pro508Ser)
NM_207122.2(EXT2):c.1534del (p.Val511_Val512insTer)
NM_207122.2(EXT2):c.1582G>A (p.Glu528Lys)
NM_207122.2(EXT2):c.1662+1G>C
NM_207122.2(EXT2):c.1668G>A (p.Trp556Ter)
NM_207122.2(EXT2):c.1684C>G (p.Arg562Gly)
NM_207122.2(EXT2):c.1712A>C (p.His571Pro)
NM_207122.2(EXT2):c.1733del (p.Asn578fs)
NM_207122.2(EXT2):c.1777G>T (p.Val593Leu)
NM_207122.2(EXT2):c.1802A>C (p.His601Pro)
NM_207122.2(EXT2):c.1806+3A>C
NM_207122.2(EXT2):c.182G>T (p.Arg61Leu)
NM_207122.2(EXT2):c.1835T>C (p.Met612Thr)
NM_207122.2(EXT2):c.1854C>G (p.Asn618Lys)
NM_207122.2(EXT2):c.1898_1899delinsCT (p.Phe633Ser)
NM_207122.2(EXT2):c.190C>T (p.Arg64Cys)
NM_207122.2(EXT2):c.1924G>A (p.Ala642Thr)
NM_207122.2(EXT2):c.2000A>G (p.Gln667Arg)
NM_207122.2(EXT2):c.200C>T (p.Pro67Leu)
NM_207122.2(EXT2):c.220G>A (p.Asp74Asn)
NM_207122.2(EXT2):c.236A>G (p.Glu79Gly)
NM_207122.2(EXT2):c.281A>G (p.Tyr94Cys)
NM_207122.2(EXT2):c.28C>T (p.Arg10Trp)
NM_207122.2(EXT2):c.292T>C (p.Phe98Leu)
NM_207122.2(EXT2):c.376A>G (p.Ile126Val)
NM_207122.2(EXT2):c.37G>A (p.Ala13Thr) rs1389288265
NM_207122.2(EXT2):c.394G>C (p.Glu132Gln) rs1954086080
NM_207122.2(EXT2):c.446G>A (p.Arg149Gln)
NM_207122.2(EXT2):c.487A>T (p.Asn163Tyr) rs1954089713
NM_207122.2(EXT2):c.50G>A (p.Arg17Lys) rs1240693088
NM_207122.2(EXT2):c.545G>A (p.Arg182Gln) rs563383543
NM_207122.2(EXT2):c.593A>C (p.Asp198Ala)
NM_207122.2(EXT2):c.701G>T (p.Ser234Ile)
NM_207122.2(EXT2):c.785A>G (p.His262Arg) rs2135014871
NM_207122.2(EXT2):c.830G>C (p.Gly277Ala)
NM_207122.2(EXT2):c.899_910dup (p.His303_Gln304insArgHisLysHis)
NM_207122.2(EXT2):c.919G>C (p.Asp307His)

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