ClinVar Miner

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

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 89
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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.1331G>T (p.Arg444Leu) rs137853151 0.00006
NM_006019.4(TCIRG1):c.1549G>A (p.Asp517Asn) rs369264588 0.00004
NM_000396.4(CTSK):c.364C>T (p.Arg122Ter) rs759107967 0.00001
NM_006019.4(TCIRG1):c.1021-1G>T rs1590807544 0.00001
NM_006019.4(TCIRG1):c.787C>T (p.Gln263Ter) rs1003722483 0.00001
NM_000088.4(COL1A1):c.3398G>A (p.Gly1133Glu) rs1906659084
NM_000396.4(CTSK):c.119del (p.Lys40fs)
NM_000396.4(CTSK):c.169_170del (p.Ile57fs)
NM_000396.4(CTSK):c.190_200del (p.Ala64fs) rs760640027
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.724_731del (p.Val242fs)
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.947_948del (p.Asn316fs)
NM_000396.4(CTSK):c.9del (p.Leu4fs)
NM_000444.6(PHEX):c.1966-1G>T rs1064795147
NM_001127898.4(CLCN5):c.941C>A (p.Ser314Ter) rs151340626
NM_002335.4(LRP5):c.1384C>T (p.Arg462Ter) rs1200833757
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.1080_1081del (p.Leu361fs)
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+5G>A rs2134430922
NM_006019.4(TCIRG1):c.1306-2A>T rs1855570841
NM_006019.4(TCIRG1):c.1378del (p.Ile460fs)
NM_006019.4(TCIRG1):c.1387G>T (p.Glu463Ter)
NM_006019.4(TCIRG1):c.1460G>A (p.Trp487Ter)
NM_006019.4(TCIRG1):c.1480C>T (p.Gln494Ter)
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.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.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.2196del (p.Ser733fs)
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.2377G>C (p.Gly793Arg)
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.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.745C>T (p.Gln249Ter)
NM_006019.4(TCIRG1):c.772C>T (p.Gln258Ter)
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.1575_1590del (p.Tyr526fs)
NM_207122.2(EXT2):c.1496-1G>C
NM_207122.2(EXT2):c.1534del (p.Val511_Val512insTer)
NM_207122.2(EXT2):c.1662+1G>C
NM_207122.2(EXT2):c.1668G>A (p.Trp556Ter)
NM_207122.2(EXT2):c.1733del (p.Asn578fs)

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