ClinVar Miner

List of variants in gene TCIRG1 reported as uncertain significance for autosomal recessive osteopetrosis 1

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 205
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HGVS dbSNP gnomAD frequency
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr) rs140963213 0.00275
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=) rs145144233 0.00182
NM_006019.4(TCIRG1):c.90C>T (p.Gly30=) rs141859450 0.00162
NM_006019.4(TCIRG1):c.1209G>A (p.Met403Ile) rs140191063 0.00095
NM_006019.4(TCIRG1):c.1536C>T (p.Tyr512=) rs138049763 0.00093
NM_006019.4(TCIRG1):c.197-5C>T rs183885218 0.00088
NM_006019.4(TCIRG1):c.1887+131G>A rs78820476 0.00069
NM_006019.4(TCIRG1):c.1487C>T (p.Thr496Met) rs141474168 0.00058
NM_006019.4(TCIRG1):c.2397C>T (p.His799=) rs141356870 0.00053
NM_006019.4(TCIRG1):c.*67C>T rs570860062 0.00048
NM_006019.4(TCIRG1):c.476G>A (p.Gly159Glu) rs199632510 0.00046
NM_006019.4(TCIRG1):c.1096C>T (p.Arg366Cys) rs148619884 0.00035
NM_006019.4(TCIRG1):c.2162T>A (p.Ile721Asn) rs150260808 0.00035
NM_006019.4(TCIRG1):c.1097G>A (p.Arg366His) rs369983011 0.00029
NM_006019.4(TCIRG1):c.1673+13G>A rs372404641 0.00029
NM_006019.4(TCIRG1):c.2046T>C (p.Pro682=) rs373493580 0.00029
NM_006019.4(TCIRG1):c.2163C>T (p.Ile721=) rs145718040 0.00029
NM_006019.4(TCIRG1):c.123C>T (p.Asn41=) rs147102889 0.00027
NM_006019.4(TCIRG1):c.1165+12G>A rs199554924 0.00026
NM_006019.4(TCIRG1):c.707C>T (p.Thr236Met) rs116001129 0.00026
NM_006019.4(TCIRG1):c.1464-10G>A rs370060039 0.00025
NM_006019.4(TCIRG1):c.-53G>A rs554788440 0.00023
NM_006019.4(TCIRG1):c.1709C>T (p.Thr570Met) rs61730880 0.00022
NM_006019.4(TCIRG1):c.2445C>T (p.Gly815=) rs150788130 0.00022
NM_006019.4(TCIRG1):c.1883G>A (p.Arg628Gln) rs201661352 0.00020
NM_006019.4(TCIRG1):c.1615G>A (p.Val539Ile) rs142539969 0.00019
NM_006019.4(TCIRG1):c.1743C>T (p.Phe581=) rs148391697 0.00019
NM_006019.4(TCIRG1):c.1227C>T (p.His409=) rs145080707 0.00017
NM_006019.4(TCIRG1):c.2414+7G>A rs200879286 0.00016
NM_006019.4(TCIRG1):c.82C>T (p.Arg28Trp) rs139397145 0.00016
NM_006019.4(TCIRG1):c.148C>T (p.Arg50Cys) rs370319355 0.00015
NM_006019.4(TCIRG1):c.629C>T (p.Thr210Met) rs372826788 0.00015
NM_006019.4(TCIRG1):c.118-6C>T rs375317575 0.00014
NM_006019.4(TCIRG1):c.1464-5C>T rs372813575 0.00011
NM_006019.4(TCIRG1):c.21C>T (p.Ser7=) rs373244328 0.00011
NM_006019.4(TCIRG1):c.387C>T (p.Ala129=) rs763756780 0.00011
NM_006019.4(TCIRG1):c.1269G>A (p.Ala423=) rs147119709 0.00010
NM_006019.4(TCIRG1):c.2333C>T (p.Ala778Val) rs144775787 0.00010
NM_006019.4(TCIRG1):c.1042G>A (p.Val348Met) rs146023337 0.00009
NM_006019.4(TCIRG1):c.1898A>G (p.Gln633Arg) rs765175241 0.00009
NM_006019.4(TCIRG1):c.1978C>T (p.Arg660Cys) rs528045019 0.00009
NM_006019.4(TCIRG1):c.2119-10C>T rs377606178 0.00009
NM_006019.4(TCIRG1):c.574G>A (p.Gly192Ser) rs371658110 0.00009
NM_006019.4(TCIRG1):c.904G>A (p.Val302Met) rs540235063 0.00009
NM_006019.4(TCIRG1):c.97G>A (p.Gly33Ser) rs775576535 0.00009
NM_006019.4(TCIRG1):c.1305+7G>C rs368136779 0.00008
NM_006019.4(TCIRG1):c.826C>T (p.Arg276Trp) rs543099977 0.00008
NM_006019.4(TCIRG1):c.1010G>A (p.Arg337Gln) rs139263189 0.00007
NM_006019.4(TCIRG1):c.1195C>T (p.Leu399=) rs151180675 0.00007
NM_006019.4(TCIRG1):c.1278A>G (p.Arg426=) rs138527421 0.00007
NM_006019.4(TCIRG1):c.1382A>G (p.Tyr461Cys) rs771395837 0.00007
NM_006019.4(TCIRG1):c.941C>T (p.Thr314Met) rs367818260 0.00007
NM_006019.4(TCIRG1):c.1020G>A (p.Ser340=) rs144158792 0.00006
NM_006019.4(TCIRG1):c.1061G>C (p.Cys354Ser) rs369222109 0.00006
NM_006019.4(TCIRG1):c.1981C>T (p.Arg661Cys) rs770889100 0.00006
NM_006019.4(TCIRG1):c.2028C>T (p.Ala676=) rs370181947 0.00006
NM_006019.4(TCIRG1):c.2119-4G>A rs554600980 0.00006
NM_006019.4(TCIRG1):c.851G>A (p.Arg284Gln) rs146244480 0.00006
NM_006019.4(TCIRG1):c.1437C>T (p.Ala479=) rs201800548 0.00005
NM_006019.4(TCIRG1):c.2344G>A (p.Val782Met) rs779910642 0.00005
NM_006019.4(TCIRG1):c.477G>A (p.Gly159=) rs746159308 0.00005
NM_006019.4(TCIRG1):c.763G>A (p.Gly255Arg) rs376201635 0.00005
NM_006019.4(TCIRG1):c.903C>T (p.Ala301=) rs773632286 0.00005
NM_006019.4(TCIRG1):c.-4-3C>T rs200201422 0.00004
NM_006019.4(TCIRG1):c.1009C>T (p.Arg337Trp) rs766765320 0.00004
NM_006019.4(TCIRG1):c.1627G>A (p.Val543Ile) rs763319140 0.00004
NM_006019.4(TCIRG1):c.1904C>T (p.Thr635Met) rs763119311 0.00004
NM_006019.4(TCIRG1):c.2119-9G>A rs761413420 0.00004
NM_006019.4(TCIRG1):c.2121C>T (p.Leu707=) rs370572421 0.00004
NM_006019.4(TCIRG1):c.2244C>T (p.Ser748=) rs759227930 0.00004
NM_006019.4(TCIRG1):c.391G>A (p.Val131Met) rs377377656 0.00004
NM_006019.4(TCIRG1):c.726C>T (p.His242=) rs1054033489 0.00004
NM_006019.4(TCIRG1):c.964G>A (p.Ala322Thr) rs202161177 0.00004
NM_006019.4(TCIRG1):c.1052G>A (p.Arg351His) rs758621844 0.00003
NM_006019.4(TCIRG1):c.1144C>T (p.Arg382Cys) rs566684294 0.00003
NM_006019.4(TCIRG1):c.1165+9C>T rs886048597 0.00003
NM_006019.4(TCIRG1):c.1438G>A (p.Ala480Thr) rs537359796 0.00003
NM_006019.4(TCIRG1):c.1843C>A (p.Leu615Ile) rs753897523 0.00003
NM_006019.4(TCIRG1):c.2181C>T (p.Cys727=) rs201017845 0.00003
NM_006019.4(TCIRG1):c.390C>T (p.Ala130=) rs750132812 0.00003
NM_006019.4(TCIRG1):c.990C>T (p.Pro330=) rs772355396 0.00003
NM_006019.4(TCIRG1):c.1066G>A (p.Asp356Asn) rs372701023 0.00002
NM_006019.4(TCIRG1):c.1087C>T (p.Arg363Cys) rs375809635 0.00002
NM_006019.4(TCIRG1):c.1165+11C>T rs745876497 0.00002
NM_006019.4(TCIRG1):c.117+1G>A rs377303800 0.00002
NM_006019.4(TCIRG1):c.1294G>A (p.Ala432Thr) rs772440359 0.00002
NM_006019.4(TCIRG1):c.1488G>A (p.Thr496=) rs368168053 0.00002
NM_006019.4(TCIRG1):c.1674-8C>T rs754864356 0.00002
NM_006019.4(TCIRG1):c.1875C>G (p.Leu625=) rs758830999 0.00002
NM_006019.4(TCIRG1):c.59C>T (p.Ala20Val) rs377034463 0.00002
NM_006019.4(TCIRG1):c.840G>A (p.Gln280=) rs1436170727 0.00002
NM_006019.4(TCIRG1):c.869C>T (p.Pro290Leu) rs886048596 0.00002
NM_006019.4(TCIRG1):c.*34G>A rs772507621 0.00001
NM_006019.4(TCIRG1):c.1088G>A (p.Arg363His) rs755474518 0.00001
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter) rs777785526 0.00001
NM_006019.4(TCIRG1):c.1305+10G>A rs1405179710 0.00001
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser) rs200851583 0.00001
NM_006019.4(TCIRG1):c.1402G>A (p.Ala468Thr) rs774244420 0.00001
NM_006019.4(TCIRG1):c.1417C>T (p.Pro473Ser) rs750456593 0.00001
NM_006019.4(TCIRG1):c.1508A>G (p.Asn503Ser) rs369803798 0.00001
NM_006019.4(TCIRG1):c.1510G>A (p.Val504Ile) rs755559179 0.00001
NM_006019.4(TCIRG1):c.1540T>A (p.Phe514Ile) rs776489478 0.00001
NM_006019.4(TCIRG1):c.1587C>A (p.Phe529Leu) rs376351835 0.00001
NM_006019.4(TCIRG1):c.1663T>C (p.Phe555Leu) rs779779379 0.00001
NM_006019.4(TCIRG1):c.1693C>T (p.Arg565Trp) rs890729823 0.00001
NM_006019.4(TCIRG1):c.16C>T (p.Arg6Trp) rs563996115 0.00001
NM_006019.4(TCIRG1):c.1718A>G (p.Glu573Gly) rs576389893 0.00001
NM_006019.4(TCIRG1):c.1825C>T (p.His609Tyr) rs751612634 0.00001
NM_006019.4(TCIRG1):c.1845C>T (p.Leu615=) rs755196821 0.00001
NM_006019.4(TCIRG1):c.1887+10G>A rs1241903068 0.00001
NM_006019.4(TCIRG1):c.1894G>A (p.Val632Ile) rs760670339 0.00001
NM_006019.4(TCIRG1):c.1985G>A (p.Arg662His) rs763065648 0.00001
NM_006019.4(TCIRG1):c.2049C>T (p.Asp683=) rs780969471 0.00001
NM_006019.4(TCIRG1):c.2071T>C (p.Ser691Pro) rs772173081 0.00001
NM_006019.4(TCIRG1):c.2115C>T (p.Ala705=) rs769840926 0.00001
NM_006019.4(TCIRG1):c.2119-13A>T rs886048600 0.00001
NM_006019.4(TCIRG1):c.2122G>A (p.Val708Ile) rs573002924 0.00001
NM_006019.4(TCIRG1):c.2232C>T (p.His744=) rs774906865 0.00001
NM_006019.4(TCIRG1):c.2358T>A (p.Ala786=) rs776554801 0.00001
NM_006019.4(TCIRG1):c.2443G>A (p.Gly815Ser) rs1308533755 0.00001
NM_006019.4(TCIRG1):c.2486A>G (p.Asp829Gly) rs147175413 0.00001
NM_006019.4(TCIRG1):c.249G>A (p.Lys83=) rs367708208 0.00001
NM_006019.4(TCIRG1):c.260C>T (p.Pro87Leu) rs982462013 0.00001
NM_006019.4(TCIRG1):c.394C>T (p.Leu132=) rs1410683808 0.00001
NM_006019.4(TCIRG1):c.417+10C>T rs1224261645 0.00001
NM_006019.4(TCIRG1):c.426C>T (p.Ala142=) rs1006980323 0.00001
NM_006019.4(TCIRG1):c.504-12C>T rs1263185890 0.00001
NM_006019.4(TCIRG1):c.550C>T (p.Arg184Cys) rs1375468915 0.00001
NM_006019.4(TCIRG1):c.571C>T (p.Arg191Cys) rs867224433 0.00001
NM_006019.4(TCIRG1):c.725A>G (p.His242Arg) rs759557477 0.00001
NM_006019.4(TCIRG1):c.745C>A (p.Gln249Lys) rs751988410 0.00001
NM_006019.4(TCIRG1):c.764G>A (p.Gly255Glu) rs1379501520 0.00001
NM_006019.4(TCIRG1):c.776A>T (p.Gln259Leu) rs1229696229 0.00001
NM_006019.4(TCIRG1):c.911T>C (p.Leu304Pro) rs1449131788 0.00001
NM_006019.4(TCIRG1):c.991G>A (p.Ala331Thr) rs773402451 0.00001
NM_006019.4(TCIRG1):c.*1_*9del (p.Ter831=) rs1555000463
NM_006019.4(TCIRG1):c.1006C>G (p.Leu336Val) rs1855355458
NM_006019.4(TCIRG1):c.1006C>T (p.Leu336=) rs1855355458
NM_006019.4(TCIRG1):c.1073C>T (p.Pro358Leu) rs2134445007
NM_006019.4(TCIRG1):c.1083C>G (p.Leu361=) rs532106336
NM_006019.4(TCIRG1):c.1100T>A (p.Phe367Tyr) rs913332283
NM_006019.4(TCIRG1):c.1119C>T (p.Gly373=) rs759279602
NM_006019.4(TCIRG1):c.1122_1124dup (p.Val375dup) rs1554996686
NM_006019.4(TCIRG1):c.1153G>A (p.Glu385Lys) rs2134445416
NM_006019.4(TCIRG1):c.117+4A>C rs751881962
NM_006019.4(TCIRG1):c.1228G>A (p.Gly410Arg)
NM_006019.4(TCIRG1):c.1306-2dup rs1554997880
NM_006019.4(TCIRG1):c.1349T>G (p.Met450Arg) rs1348842114
NM_006019.4(TCIRG1):c.1407C>A (p.Thr469=) rs570336313
NM_006019.4(TCIRG1):c.1421C>T (p.Ser474Leu) rs199914625
NM_006019.4(TCIRG1):c.1511T>A (p.Val504Asp) rs1855591352
NM_006019.4(TCIRG1):c.1528G>A (p.Gly510Arg) rs868702370
NM_006019.4(TCIRG1):c.1555-12C>T rs886048598
NM_006019.4(TCIRG1):c.1602G>A (p.Lys534=) rs1855645512
NM_006019.4(TCIRG1):c.1623G>A (p.Leu541=) rs534950651
NM_006019.4(TCIRG1):c.1630G>A (p.Val544Met) rs371505143
NM_006019.4(TCIRG1):c.1674-9del rs1855654196
NM_006019.4(TCIRG1):c.1680T>C (p.Phe560=) rs1855655326
NM_006019.4(TCIRG1):c.170G>T (p.Arg57Leu) rs150648332
NM_006019.4(TCIRG1):c.172T>C (p.Cys58Arg) rs1855184602
NM_006019.4(TCIRG1):c.17G>A (p.Arg6Gln) rs768203698
NM_006019.4(TCIRG1):c.1806_1811del (p.Ala603_Pro604del) rs1425479122
NM_006019.4(TCIRG1):c.1835_1837del (p.Asn612del) rs1554999148
NM_006019.4(TCIRG1):c.1853A>G (p.His618Arg) rs886048599
NM_006019.4(TCIRG1):c.1887+130C>T rs928213157
NM_006019.4(TCIRG1):c.1887+3G>C
NM_006019.4(TCIRG1):c.1903_1920del (p.Thr635_Ala640del) rs1554999539
NM_006019.4(TCIRG1):c.1973_1975dup (p.Arg658dup) rs757802200
NM_006019.4(TCIRG1):c.1976_1978dup (p.His659dup) rs1554999610
NM_006019.4(TCIRG1):c.1978C>G (p.Arg660Gly) rs528045019
NM_006019.4(TCIRG1):c.1979G>A (p.Arg660His) rs746874956
NM_006019.4(TCIRG1):c.1979GCC[1] (p.Arg661_Arg662del) rs781509075
NM_006019.4(TCIRG1):c.197C>T (p.Thr66Ile) rs886048593
NM_006019.4(TCIRG1):c.1993AGG[1] (p.Arg666del) rs886332099
NM_006019.4(TCIRG1):c.2106A>G (p.Glu702=) rs771368616
NM_006019.4(TCIRG1):c.2185T>C (p.Ser729Pro) rs1279951928
NM_006019.4(TCIRG1):c.2274_2279dup (p.760LG[3]) rs761752296
NM_006019.4(TCIRG1):c.2279TGGGCC[4] (p.760LG[4]) rs199973759
NM_006019.4(TCIRG1):c.2293G>A (p.Glu765Lys) rs1855752104
NM_006019.4(TCIRG1):c.2301C>T (p.Gly767=) rs768701072
NM_006019.4(TCIRG1):c.2392C>T (p.Leu798=) rs1855760265
NM_006019.4(TCIRG1):c.2408_2410dup (p.Leu803dup) rs2134466694
NM_006019.4(TCIRG1):c.2414G>A (p.Trp805Ter) rs1555000308
NM_006019.4(TCIRG1):c.2415-2_2418delinsGGGTT
NM_006019.4(TCIRG1):c.243G>T (p.Pro81=) rs756073508
NM_006019.4(TCIRG1):c.2443G>C (p.Gly815Arg)
NM_006019.4(TCIRG1):c.2448G>C (p.Thr816=) rs139049989
NM_006019.4(TCIRG1):c.2475C>A (p.Phe825Leu) rs886048602
NM_006019.4(TCIRG1):c.261G>A (p.Pro87=) rs887998539
NM_006019.4(TCIRG1):c.269C>A (p.Pro90Gln) rs908094911
NM_006019.4(TCIRG1):c.303_309del (p.Glu102fs) rs886048594
NM_006019.4(TCIRG1):c.308G>C (p.Arg103Pro) rs775326246
NM_006019.4(TCIRG1):c.418-21A>G rs1855249165
NM_006019.4(TCIRG1):c.609_620del (p.Gln203_Glu206del) rs1554995554
NM_006019.4(TCIRG1):c.624C>G (p.Pro208=) rs779281265
NM_006019.4(TCIRG1):c.649A>G (p.Met217Val) rs1554995659
NM_006019.4(TCIRG1):c.651G>T (p.Met217Ile) rs1554995662
NM_006019.4(TCIRG1):c.656T>C (p.Phe219Ser) rs748465503
NM_006019.4(TCIRG1):c.746AGG[2] (p.Glu251del) rs1554995833
NM_006019.4(TCIRG1):c.807+18_807+54del rs1192256631
NM_006019.4(TCIRG1):c.934A>G (p.Ser312Gly) rs1855349604
NM_006019.4(TCIRG1):c.942_943insGTG (p.Thr314_His315insVal) rs779622577
NM_006019.4(TCIRG1):c.961G>A (p.Glu321Lys)
NM_006019.4(TCIRG1):c.961G>C (p.Glu321Gln) rs372690969
NM_006019.4(TCIRG1):c.979C>A (p.Arg327=) rs749361897

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