ClinVar Miner

List of variants in gene TCIRG1 studied for Osteopetrosis autosomal recessive 1

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Total variants: 81
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HGVS dbSNP
NM_006019.3(TCIRG1):c.649_674del (p.Met217Terfs)
NM_006019.4(TCIRG1):c.*1_*9del (p.Ter831=) rs1555000463
NM_006019.4(TCIRG1):c.-5+1G>T rs917505107
NM_006019.4(TCIRG1):c.1024G>T (p.Glu342Ter) rs1159666762
NM_006019.4(TCIRG1):c.1052G>A (p.Arg351His) rs758621844
NM_006019.4(TCIRG1):c.1087C>T (p.Arg363Cys) rs375809635
NM_006019.4(TCIRG1):c.1118del (p.Gly373fs) rs1269558164
NM_006019.4(TCIRG1):c.1122_1124dup (p.Val375dup) rs1554996686
NM_006019.4(TCIRG1):c.117+1G>A rs377303800
NM_006019.4(TCIRG1):c.117+4A>T rs751881962
NM_006019.4(TCIRG1):c.1209G>A (p.Met403Ile) rs140191063
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg) rs137853150
NM_006019.4(TCIRG1):c.1213G>C (p.Gly405Arg) rs137853150
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr) rs140963213
NM_006019.4(TCIRG1):c.1276C>T (p.Arg426Ter) rs1489993984
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter) rs777785526
NM_006019.4(TCIRG1):c.1305+2T>C rs1554997818
NM_006019.4(TCIRG1):c.1306-1G>A rs1554997884
NM_006019.4(TCIRG1):c.1306-2dup rs1554997880
NM_006019.4(TCIRG1):c.1331G>T (p.Arg444Leu) rs137853151
NM_006019.4(TCIRG1):c.1349T>G (p.Met450Arg) rs1348842114
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser) rs200851583
NM_006019.4(TCIRG1):c.1385dup (p.Asn462fs) rs1554997997
NM_006019.4(TCIRG1):c.1392C>A (p.Cys464Ter) rs137853149
NM_006019.4(TCIRG1):c.1421C>T (p.Ser474Leu)
NM_006019.4(TCIRG1):c.1435_1438dup (p.Ala480fs) rs1554998061
NM_006019.4(TCIRG1):c.148C>T (p.Arg50Cys) rs370319355
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.1674-1G>A rs139617644
NM_006019.4(TCIRG1):c.1674G>A (p.Val558=) rs745971874
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=) rs145144233
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.1887+1G>C rs1554999205
NM_006019.4(TCIRG1):c.1889_1890dup (p.Val631fs) rs1554999516
NM_006019.4(TCIRG1):c.1891del (p.Val631fs) rs1300297240
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.1979_1981GCC[1] (p.Arg661_Arg662del) rs781509075
NM_006019.4(TCIRG1):c.1993_1995AGG[1] (p.Arg666del) rs886332099
NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter) rs371263807
NM_006019.4(TCIRG1):c.205C>T (p.Gln69Ter) rs1554995009
NM_006019.4(TCIRG1):c.2185T>C (p.Ser729Pro) rs1279951928
NM_006019.4(TCIRG1):c.2236+1G>A rs1475338876
NM_006019.4(TCIRG1):c.2236C>T (p.Gln746Ter) rs748659068
NM_006019.4(TCIRG1):c.2274_2279dup (p.760_761LG[3]) rs761752296
NM_006019.4(TCIRG1):c.2279_2284TGGGCC[4] (p.760_761LG[4]) rs199973759
NM_006019.4(TCIRG1):c.2414G>A (p.Trp805Ter) rs1555000308
NM_006019.4(TCIRG1):c.2415-2A>G rs1555000376
NM_006019.4(TCIRG1):c.242del (p.Pro81fs) rs1208311085
NM_006019.4(TCIRG1):c.303_309del (p.Glu102fs) rs886048594
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter) rs1338631330
NM_006019.4(TCIRG1):c.391G>A (p.Val131Met) rs377377656
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.557_570del (p.Leu186fs) rs1554995522
NM_006019.4(TCIRG1):c.609_620del (p.Gln203_Glu206del) rs1554995554
NM_006019.4(TCIRG1):c.629C>T (p.Thr210Met) rs372826788
NM_006019.4(TCIRG1):c.630+1G>T rs1554995582
NM_006019.4(TCIRG1):c.630+2T>C rs1392364437
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.690_706dup (p.Thr236fs) rs1554995706
NM_006019.4(TCIRG1):c.707C>T (p.Thr236Met) rs116001129
NM_006019.4(TCIRG1):c.713+1G>C rs774308815
NM_006019.4(TCIRG1):c.713+1G>T rs774308815
NM_006019.4(TCIRG1):c.725A>G (p.His242Arg) rs759557477
NM_006019.4(TCIRG1):c.746_748AGG[2] (p.Glu251del) rs1554995833
NM_006019.4(TCIRG1):c.807+18_807+54del rs1192256631
NM_006019.4(TCIRG1):c.807+1G>T rs1458295257
NM_006019.4(TCIRG1):c.807+8_807+31del rs1554995901
NM_006019.4(TCIRG1):c.90C>T (p.Gly30=) rs141859450
NM_006019.4(TCIRG1):c.922del (p.Gln308fs) rs1554996130
NM_006019.4(TCIRG1):c.942_943insGTG (p.His315_Lys316insVal) rs779622577
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter) rs749361897

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