ClinVar Miner

List of variants studied for bone disorder by Molecular Lab, Department of Haematology, Christian Medical College

Included ClinVar conditions (1436):
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ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg) rs137853150 0.00019
NM_000376.3(VDR):c.110A>G (p.Asn37Ser) rs370473254 0.00001
NM_001287.6(CLCN7):c.1681C>T (p.Arg561Trp) rs2038701489 0.00001
NM_006019.4(TCIRG1):c.1165+1G>C rs780745598 0.00001
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser) rs200851583 0.00001
NM_006019.4(TCIRG1):c.2014-1G>A rs1197237618 0.00001
NM_006019.4(TCIRG1):c.971dup (p.Cys324fs) rs1565156743 0.00001
NM_000138.5(FBN1):c.3766A>G (p.Asn1256Asp) rs772890884
NM_001287.6(CLCN7):c.1125C>G (p.Ile375Met) rs1410701535
NM_001287.6(CLCN7):c.2274C>G (p.Phe758Leu) rs760740877
NM_001287.6(CLCN7):c.643G>A (p.Gly215Arg) rs397515539
NM_002834.5(PTPN11):c.28A>C (p.Asn10His) rs368633510
NM_003701.4(TNFSF11):c.929del (p.Ala310fs) rs2137916719
NM_003839.4(TNFRSF11A):c.147A>C (p.Lys49Asn) rs2145289462
NM_003839.4(TNFRSF11A):c.1530dup (p.Ser511fs) rs2145357936
NM_003839.4(TNFRSF11A):c.380G>A (p.Cys127Tyr) rs2145309285
NM_003839.4(TNFRSF11A):c.730G>T (p.Ala244Ser) rs121908658
NM_006019.4(TCIRG1):c.1153G>A (p.Glu385Lys) rs2134445416
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.196+1G>T rs2134432498
NM_006019.4(TCIRG1):c.2236+1G>C rs1475338876
NM_006019.4(TCIRG1):c.553del (p.Leu185fs) rs1855280375
NM_006019.4(TCIRG1):c.688C>T (p.Gln230Ter) rs1156299579
NM_006019.4(TCIRG1):c.807+2T>G rs2134440422
NM_006019.4(TCIRG1):c.969G>A (p.Trp323Ter) rs2134442342

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