ClinVar Miner

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

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_006019.4(TCIRG1):c.1020+152G>T rs72926459 0.18098
NM_006019.4(TCIRG1):c.479G>A (p.Gly160Glu) rs186758849 0.00601
NM_006019.4(TCIRG1):c.*68G>A rs139720520 0.00538
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=) rs34211419 0.00473
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=) rs145144233 0.00182
NM_006019.4(TCIRG1):c.630+14G>A rs201531306 0.00161
NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu) rs34227834 0.00144
NM_006019.4(TCIRG1):c.813C>T (p.Leu271=) rs377108710 0.00099
NM_006019.4(TCIRG1):c.1536C>T (p.Tyr512=) rs138049763 0.00093
NM_006019.4(TCIRG1):c.611C>T (p.Pro204Leu) rs373711940 0.00071
NM_006019.4(TCIRG1):c.274C>T (p.Arg92Trp) rs371907380 0.00052
NM_006019.4(TCIRG1):c.476G>A (p.Gly159Glu) rs199632510 0.00046
NM_006019.4(TCIRG1):c.1296G>A (p.Ala432=) rs200900947 0.00040
NM_006019.4(TCIRG1):c.2193C>T (p.Thr731=) rs141601593 0.00025
NM_006019.4(TCIRG1):c.942G>A (p.Thr314=) rs764846667 0.00015
NM_006019.4(TCIRG1):c.826C>T (p.Arg276Trp) rs543099977 0.00008
NM_006019.4(TCIRG1):c.1278A>G (p.Arg426=) rs138527421 0.00007
NM_006019.4(TCIRG1):c.1629C>T (p.Val543=) rs367732638 0.00006
NM_006019.4(TCIRG1):c.477G>A (p.Gly159=) rs746159308 0.00005
NM_006019.4(TCIRG1):c.1146C>A (p.Arg382=) rs753324402 0.00004
NM_006019.4(TCIRG1):c.1904C>T (p.Thr635Met) rs763119311 0.00004
NM_006019.4(TCIRG1):c.2118+10G>A rs775491643 0.00003
NM_006019.4(TCIRG1):c.1080A>G (p.Thr360=) rs767700786 0.00001
NM_006019.4(TCIRG1):c.381C>T (p.Leu127=) rs1266423367 0.00001
NM_006019.4(TCIRG1):c.1996A>C (p.Arg666=) rs767714758
NM_006019.4(TCIRG1):c.807+8_807+31del rs1554995901

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