ClinVar Miner

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

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Total variants: 36
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HGVS dbSNP
NM_006019.4(TCIRG1):c.*1_*9del (p.Ter831=) rs1555000463
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.1122_1124dup (p.Val375dup) rs1554996686
NM_006019.4(TCIRG1):c.117+1G>A rs377303800
NM_006019.4(TCIRG1):c.1209G>A (p.Met403Ile) rs140191063
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr) rs140963213
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter) rs777785526
NM_006019.4(TCIRG1):c.1306-2dup rs1554997880
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.1421C>T (p.Ser474Leu)
NM_006019.4(TCIRG1):c.148C>T (p.Arg50Cys) rs370319355
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.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.2185T>C (p.Ser729Pro) rs1279951928
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.303_309del (p.Glu102fs) rs886048594
NM_006019.4(TCIRG1):c.391G>A (p.Val131Met) rs377377656
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.649A>G (p.Met217Val) rs1554995659
NM_006019.4(TCIRG1):c.651G>T (p.Met217Ile) rs1554995662
NM_006019.4(TCIRG1):c.707C>T (p.Thr236Met) rs116001129
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.90C>T (p.Gly30=) rs141859450
NM_006019.4(TCIRG1):c.942_943insGTG (p.His315_Lys316insVal) rs779622577

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