ClinVar Miner

List of variants reported as pathogenic by Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_020041.3(SLC2A9):c.646G>A (p.Gly216Arg) rs561633150 0.00061
NM_020041.3(SLC2A9):c.593G>A (p.Arg198His) rs756988113 0.00003
NM_000276.4(OCRL):c.1056+1G>A
NM_000276.4(OCRL):c.1245-1083G>A rs1936192276
NM_000276.4(OCRL):c.1467-1G>A
NM_000276.4(OCRL):c.1907T>A (p.Val636Glu) rs1602802472
NM_000276.4(OCRL):c.1979A>C (p.His660Pro) rs1602802640
NM_000276.4(OCRL):c.2078C>T (p.Pro693Leu) rs1936370877
NM_001127898.4(CLCN5):c.1176del (p.Phe392fs) rs1933891368
NM_001127898.4(CLCN5):c.1396G>C (p.Asp466His) rs1569540369
NM_001127898.4(CLCN5):c.1768dup (p.Ser590fs) rs1934037265
NM_001127898.4(CLCN5):c.1771_1772del (p.Leu591fs) rs1934037561
NM_001127898.4(CLCN5):c.1810T>A (p.Tyr604Asn) rs1934039336
NM_001127898.4(CLCN5):c.1851G>T (p.Trp617Cys) rs1934041295
NM_001127898.4(CLCN5):c.2236del (p.Thr746fs) rs1934069016
NM_001127898.4(CLCN5):c.477_478dup (p.Cys160fs) rs1933380245
NM_001127898.4(CLCN5):c.933+2T>C rs2147582103
NM_001127898.4(CLCN5):c.976G>C (p.Gly326Arg) rs2147594126
NM_001174147.2(LMX1B):c.305A>G (p.Tyr102Cys) rs1564143881
NM_001174147.2(LMX1B):c.709T>C (p.Ser237Pro) rs1588307152
NM_006580.4(CLDN16):c.103G>A (p.Asp35Asn) rs2108658339
NM_006580.4(CLDN16):c.137T>C (p.Leu46Pro) rs2108670592
NM_006580.4(CLDN16):c.236G>A (p.Arg79Gln) rs968906940
NM_006580.4(CLDN16):c.392G>A (p.Gly131Glu) rs138308105
NM_017649.5(CNNM2):c.1147A>G (p.Met383Val) rs1845550578
NM_017672.6(TRPM7):c.3137G>A (p.Gly1046Asp) rs2059709974
NM_057176.3(BSND):c.452del (p.Pro151fs) rs765135576
NM_144585.4(SLC22A12):c.1523G>A (p.Ser508Asn)
NM_144585.4(SLC22A12):c.412G>C (p.Val138Leu) rs149722479
NM_144585.4(SLC22A12):c.502G>A (p.Asp168Asn) rs2135442758
NM_148960.3(CLDN19):c.181C>T (p.Gln61Ter)
NM_148960.3(CLDN19):c.388G>T (p.Gly130Cys) rs1557551678

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