ClinVar Miner

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

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_006019.4(TCIRG1):c.1674-1G>A rs139617644 0.00019
NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter) rs371263807 0.00010
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg) rs137853150 0.00007
NM_006019.4(TCIRG1):c.1331G>T (p.Arg444Leu) rs137853151 0.00006
NM_006019.4(TCIRG1):c.2236+1G>A rs1475338876 0.00004
NM_006019.4(TCIRG1):c.1554+2T>A rs761918801 0.00003
NM_006019.4(TCIRG1):c.117+1G>A rs377303800 0.00002
NM_006019.4(TCIRG1):c.1555-2A>C rs758977199 0.00002
NM_006019.4(TCIRG1):c.-5+1G>T rs917505107 0.00001
NM_006019.4(TCIRG1):c.1276C>T (p.Arg426Ter) rs1489993984 0.00001
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter) rs777785526 0.00001
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser) rs200851583 0.00001
NM_006019.4(TCIRG1):c.1674G>A (p.Val558=) rs745971874 0.00001
NM_006019.4(TCIRG1):c.196+5G>A rs1470999303 0.00001
NM_006019.4(TCIRG1):c.2014-1G>A rs1197237618 0.00001
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter) rs1338631330 0.00001
NM_006019.4(TCIRG1):c.630G>A (p.Thr210=) rs1293760338 0.00001
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter) rs749361897 0.00001
NM_001351059.2(TCIRG1):c.-262_-237del rs2134438856
NM_006019.4(TCIRG1):c.1037_1040dup (p.Val348fs)
NM_006019.4(TCIRG1):c.1114C>T (p.Gln372Ter) rs776436008
NM_006019.4(TCIRG1):c.1165+1G>C rs780745598
NM_006019.4(TCIRG1):c.117+4A>T rs751881962
NM_006019.4(TCIRG1):c.1213G>C (p.Gly405Arg) rs137853150
NM_006019.4(TCIRG1):c.1230del (p.Leu411fs) rs2134454279
NM_006019.4(TCIRG1):c.1348_1376dup (p.Phe459fs) rs747511049
NM_006019.4(TCIRG1):c.1384_1386del (p.Asn462del) rs771271907
NM_006019.4(TCIRG1):c.1392C>A (p.Cys464Ter) rs137853149
NM_006019.4(TCIRG1):c.1536C>A (p.Tyr512Ter)
NM_006019.4(TCIRG1):c.1674-1G>C
NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter) rs1855655612
NM_006019.4(TCIRG1):c.1885C>T (p.Gln629Ter) rs895239701
NM_006019.4(TCIRG1):c.1891del (p.Val631fs) rs1300297240
NM_006019.4(TCIRG1):c.196+1G>T rs2134432498
NM_006019.4(TCIRG1):c.2161_2163del (p.Ile721del) rs780311417
NM_006019.4(TCIRG1):c.2218_2219del (p.Leu740fs) rs1565164499
NM_006019.4(TCIRG1):c.2236+1G>C rs1475338876
NM_006019.4(TCIRG1):c.2236C>T (p.Gln746Ter) rs748659068
NM_006019.4(TCIRG1):c.2376_2379del (p.Glu792fs)
NM_006019.4(TCIRG1):c.2383_2384del (p.Ala796fs) rs1346704603
NM_006019.4(TCIRG1):c.242del (p.Pro81fs) rs1208311085
NM_006019.4(TCIRG1):c.480dup (p.Pro161fs) rs1554995341
NM_006019.4(TCIRG1):c.504-6C>A rs1028394725
NM_006019.4(TCIRG1):c.553del (p.Leu185fs) rs1855280375
NM_006019.4(TCIRG1):c.630+2T>C rs1392364437
NM_006019.4(TCIRG1):c.647G>A (p.Trp216Ter)
NM_006019.4(TCIRG1):c.688C>T (p.Gln230Ter) rs1156299579
NM_006019.4(TCIRG1):c.797del (p.Glu266fs) rs1431956318
NM_006019.4(TCIRG1):c.807+2T>G rs2134440422
NM_006019.4(TCIRG1):c.922del (p.Gln308fs) rs1554996130
NM_006019.4(TCIRG1):c.969G>A (p.Trp323Ter) rs2134442342
NM_006019.4(TCIRG1):c.971dup (p.Cys324fs) rs1565156743

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