ClinVar Miner

List of variants in gene CLCN5 reported as pathogenic for not provided

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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_49834581)_(49840657_?)del
NC_000023.10:g.(?_49834581)_(49856876_?)del
NC_000023.10:g.(?_49845231)_(49851547_?)del
NM_001127898.4(CLCN5):c.1001dup (p.Ser335fs)
NM_001127898.4(CLCN5):c.1009G>A (p.Glu337Lys) rs2147594216
NM_001127898.4(CLCN5):c.1043T>A (p.Leu348Ter)
NM_001127898.4(CLCN5):c.1092dup (p.Ile365fs) rs2147595436
NM_001127898.4(CLCN5):c.1131del (p.Phe376_Tyr377insTer)
NM_001127898.4(CLCN5):c.1249C>T (p.Arg417Ter) rs797044810
NM_001127898.4(CLCN5):c.1329dup (p.Asn444fs) rs1933898062
NM_001127898.4(CLCN5):c.1413_1414del (p.Cys471_Asp472delinsTer)
NM_001127898.4(CLCN5):c.1478dup (p.Val494fs)
NM_001127898.4(CLCN5):c.1609C>T (p.Arg537Ter) rs797044811
NM_001127898.4(CLCN5):c.2362C>T (p.Arg788Ter) rs797044814
NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter) rs1049618423
NM_001127898.4(CLCN5):c.310C>T (p.Arg104Ter) rs797044808
NM_001127898.4(CLCN5):c.328del (p.Ser110fs) rs1933254254
NM_001127898.4(CLCN5):c.415+1G>A rs1569540051
NM_001127898.4(CLCN5):c.467_471del (p.Lys156fs)
NM_001127898.4(CLCN5):c.483del (p.Gly163fs)
NM_001127898.4(CLCN5):c.524_525del (p.Asn174_Ser175insTer)
NM_001127898.4(CLCN5):c.726+1G>A
NM_001127898.4(CLCN5):c.845del (p.Gly282fs) rs1602123307
NM_001127898.4(CLCN5):c.933+1G>A
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu) rs151340626

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