ClinVar Miner

List of variants reported as likely pathogenic for Autosomal recessive osteopetrosis 1

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ClinVar version:
Total variants: 139
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HGVS dbSNP gnomAD frequency
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg) rs137853150 0.00019
NM_006019.4(TCIRG1):c.1331G>T (p.Arg444Leu) rs137853151 0.00006
NM_006019.4(TCIRG1):c.1549G>A (p.Asp517Asn) rs369264588 0.00003
NM_006019.4(TCIRG1):c.117+1G>A rs377303800 0.00002
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.1297C>T (p.Gln433Ter) rs777785526 0.00001
NM_006019.4(TCIRG1):c.1306-1G>A rs1554997884 0.00001
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser) rs200851583 0.00001
NM_006019.4(TCIRG1):c.1378del (p.Ile460fs) rs1855576051 0.00001
NM_006019.4(TCIRG1):c.1664_1667dup (p.His557fs) rs767301647 0.00001
NM_006019.4(TCIRG1):c.1673+2T>C rs747048627 0.00001
NM_006019.4(TCIRG1):c.1887+1G>A rs1554999205 0.00001
NM_006019.4(TCIRG1):c.1967del (p.Leu656fs) rs1855697254 0.00001
NM_006019.4(TCIRG1):c.2066G>A (p.Trp689Ter) rs1590817956 0.00001
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter) rs1338631330 0.00001
NM_006019.4(TCIRG1):c.787C>T (p.Gln263Ter) rs1003722483 0.00001
NM_006019.4(TCIRG1):c.807+1G>T rs1458295257 0.00001
NM_006019.4(TCIRG1):c.968G>A (p.Trp323Ter) rs1327818531 0.00001
NM_006019.4(TCIRG1):c.971dup (p.Cys324fs) rs1565156743 0.00001
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter) rs749361897 0.00001
NM_006019.4(TCIRG1):c.-5+1G>C rs917505107
NM_006019.4(TCIRG1):c.1006_1020+17del rs2495628251
NM_006019.4(TCIRG1):c.1019C>A (p.Ser340Ter) rs201172503
NM_006019.4(TCIRG1):c.1020+1G>T rs1855356909
NM_006019.4(TCIRG1):c.1024G>T (p.Glu342Ter) rs1159666762
NM_006019.4(TCIRG1):c.1031del (p.Gly344fs)
NM_006019.4(TCIRG1):c.1036_1039del (p.Ser346fs) rs2495631727
NM_006019.4(TCIRG1):c.1077dup (p.Thr360fs) rs1158449736
NM_006019.4(TCIRG1):c.1080_1081del (p.Leu361fs) rs2495632090
NM_006019.4(TCIRG1):c.1118del (p.Gly373fs) rs1269558164
NM_006019.4(TCIRG1):c.1128del (p.Asp376fs) rs2495632459
NM_006019.4(TCIRG1):c.1158_1159del (p.Asn387fs) rs2495632672
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.1211del (p.Phe404fs) rs2495644292
NM_006019.4(TCIRG1):c.1213G>C (p.Gly405Arg) rs137853150
NM_006019.4(TCIRG1):c.1228G>A (p.Gly410Arg) rs775902505
NM_006019.4(TCIRG1):c.1255dup (p.Ala419fs) rs2495644759
NM_006019.4(TCIRG1):c.1305+2T>C rs1554997818
NM_006019.4(TCIRG1):c.1306-2A>T rs1855570841
NM_006019.4(TCIRG1):c.1315_1325del (p.Thr439fs) rs2495645977
NM_006019.4(TCIRG1):c.1320_1321del (p.Phe441fs) rs2134455003
NM_006019.4(TCIRG1):c.1323_1324del (p.Phe441fs) rs2495646107
NM_006019.4(TCIRG1):c.1346_1351del (p.Leu449_Gly451delinsArg) rs2134455141
NM_006019.4(TCIRG1):c.1371del (p.Gly458fs) rs2134455254
NM_006019.4(TCIRG1):c.1385dup (p.Asn462fs) rs1554997997
NM_006019.4(TCIRG1):c.1387G>T (p.Glu463Ter) rs774578979
NM_006019.4(TCIRG1):c.1419del (p.Ser474fs) rs2495647470
NM_006019.4(TCIRG1):c.1432_1449delinsT (p.Val478fs) rs2495647732
NM_006019.4(TCIRG1):c.1435_1438dup (p.Ala480fs) rs1554998061
NM_006019.4(TCIRG1):c.1459del (p.Trp487fs) rs2134455711
NM_006019.4(TCIRG1):c.1460G>A (p.Trp487Ter) rs2495648021
NM_006019.4(TCIRG1):c.1480C>T (p.Gln494Ter) rs1855589148
NM_006019.4(TCIRG1):c.1490del (p.Met497fs) rs2495649079
NM_006019.4(TCIRG1):c.1511dup (p.Thr505fs)
NM_006019.4(TCIRG1):c.1553del (p.Pro518fs) rs775657670
NM_006019.4(TCIRG1):c.1554+1G>A rs1439348400
NM_006019.4(TCIRG1):c.1554+1G>T rs1439348400
NM_006019.4(TCIRG1):c.1555-2A>C rs758977199
NM_006019.4(TCIRG1):c.1559G>A (p.Trp520Ter) rs1057517365
NM_006019.4(TCIRG1):c.1567del (p.Ala523fs) rs2495655889
NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter) rs1855655612
NM_006019.4(TCIRG1):c.1699del (p.Leu567fs) rs2495657837
NM_006019.4(TCIRG1):c.16del (p.Arg6fs) rs2495606596
NM_006019.4(TCIRG1):c.1722del (p.Thr575fs) rs2495658074
NM_006019.4(TCIRG1):c.1782T>A (p.Cys594Ter) rs773769785
NM_006019.4(TCIRG1):c.1812del (p.Ser605fs) rs2495659079
NM_006019.4(TCIRG1):c.1884del (p.Gln629fs) rs2495659749
NM_006019.4(TCIRG1):c.1887+1G>C rs1554999205
NM_006019.4(TCIRG1):c.1888-1G>T rs2134462513
NM_006019.4(TCIRG1):c.1889_1890dup (p.Val631fs) rs1554999516
NM_006019.4(TCIRG1):c.1891del (p.Val631fs) rs1300297240
NM_006019.4(TCIRG1):c.193_195delinsA (p.Phe65fs)
NM_006019.4(TCIRG1):c.196+1G>T rs2134432498
NM_006019.4(TCIRG1):c.1978del (p.Arg660fs) rs2134462969
NM_006019.4(TCIRG1):c.2011C>T (p.Gln671Ter) rs2495664524
NM_006019.4(TCIRG1):c.205C>T (p.Gln69Ter) rs1554995009
NM_006019.4(TCIRG1):c.2088dup (p.Gly697fs) rs2495666879
NM_006019.4(TCIRG1):c.2119-2A>C rs2495667681
NM_006019.4(TCIRG1):c.2146C>T (p.Gln716Ter) rs2495667919
NM_006019.4(TCIRG1):c.2161_2163del (p.Ile721del) rs780311417
NM_006019.4(TCIRG1):c.2196del (p.Ser733fs) rs2495668378
NM_006019.4(TCIRG1):c.2218_2219del (p.Leu740fs) rs1565164499
NM_006019.4(TCIRG1):c.2321del (p.Val774fs) rs2495671574
NM_006019.4(TCIRG1):c.2324C>G (p.Pro775Arg) rs2495671613
NM_006019.4(TCIRG1):c.2329_2387dup (p.Ala796_Phe797insLeuProProLeuProTer) rs1565165023
NM_006019.4(TCIRG1):c.2376_2379del (p.Glu792fs) rs1189520104
NM_006019.4(TCIRG1):c.2377G>A (p.Gly793Arg)
NM_006019.4(TCIRG1):c.2377G>C (p.Gly793Arg) rs765444519
NM_006019.4(TCIRG1):c.2414+1G>T rs1197127947
NM_006019.4(TCIRG1):c.2414G>A (p.Trp805Ter) rs1555000308
NM_006019.4(TCIRG1):c.2415-1G>C rs1590819770
NM_006019.4(TCIRG1):c.2415-2A>G rs1555000376
NM_006019.4(TCIRG1):c.242del (p.Pro81fs) rs1208311085
NM_006019.4(TCIRG1):c.2450dup (p.Tyr818fs) rs1590819834
NM_006019.4(TCIRG1):c.245del (p.Pro82fs) rs2495614644
NM_006019.4(TCIRG1):c.303_309del (p.Glu102fs) rs886048594
NM_006019.4(TCIRG1):c.304del (p.Glu102fs) rs2495615155
NM_006019.4(TCIRG1):c.361C>T (p.Gln121Ter) rs1855236679
NM_006019.4(TCIRG1):c.376C>T (p.Gln126Ter) rs903939170
NM_006019.4(TCIRG1):c.390del (p.Val131fs) rs2495615976
NM_006019.4(TCIRG1):c.418-1G>C rs2495616858
NM_006019.4(TCIRG1):c.418-1G>T
NM_006019.4(TCIRG1):c.418-21A>G rs1855249165
NM_006019.4(TCIRG1):c.429_430del (p.Thr145fs) rs2495616947
NM_006019.4(TCIRG1):c.446C>G (p.Ser149Ter) rs979358405
NM_006019.4(TCIRG1):c.449_452del (p.Glu150fs) rs2134436277
NM_006019.4(TCIRG1):c.455_457delinsGG (p.Thr152fs) rs2495617188
NM_006019.4(TCIRG1):c.466C>T (p.Gln156Ter) rs1554995330
NM_006019.4(TCIRG1):c.479_480delinsT (p.Gly160fs) rs1554995350
NM_006019.4(TCIRG1):c.480dup (p.Pro161fs) rs1554995341
NM_006019.4(TCIRG1):c.487C>T (p.Gln163Ter) rs1385741705
NM_006019.4(TCIRG1):c.503+1G>A rs1554995381
NM_006019.4(TCIRG1):c.503+5G>A rs1855256745
NM_006019.4(TCIRG1):c.507_513del (p.Phe169fs) rs2495620146
NM_006019.4(TCIRG1):c.523G>T (p.Glu175Ter) rs2134437954
NM_006019.4(TCIRG1):c.530_537del (p.His177fs) rs1295614525
NM_006019.4(TCIRG1):c.557_570del (p.Leu186fs) rs1554995522
NM_006019.4(TCIRG1):c.625dup (p.Val209fs) rs2495620930
NM_006019.4(TCIRG1):c.630+1G>T rs1554995582
NM_006019.4(TCIRG1):c.674del (p.Gly225fs) rs1590804397
NM_006019.4(TCIRG1):c.690_706dup (p.Thr236fs) rs1554995706
NM_006019.4(TCIRG1):c.702del (p.Ile235fs) rs2495622382
NM_006019.4(TCIRG1):c.713+1G>C rs774308815
NM_006019.4(TCIRG1):c.713+1G>T rs774308815
NM_006019.4(TCIRG1):c.723C>A (p.Cys241Ter) rs2495623626
NM_006019.4(TCIRG1):c.745C>T (p.Gln249Ter) rs751988410
NM_006019.4(TCIRG1):c.751_752insGTATGGGG (p.Glu251fs) rs2495623863
NM_006019.4(TCIRG1):c.766del (p.Ala256fs) rs2495624005
NM_006019.4(TCIRG1):c.772C>T (p.Gln258Ter) rs866821968
NM_006019.4(TCIRG1):c.807+1G>A rs1458295257
NM_006019.4(TCIRG1):c.808-2A>C rs2495626690
NM_006019.4(TCIRG1):c.824_825del (p.Glu275fs) rs1182235762
NM_006019.4(TCIRG1):c.862_866delinsG (p.Leu288fs) rs1855343916
NM_006019.4(TCIRG1):c.898A>T (p.Lys300Ter) rs762259521
NM_006019.4(TCIRG1):c.907dup (p.Tyr303fs) rs1855347940
NM_006019.4(TCIRG1):c.927C>A (p.Cys309Ter) rs2495627659

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