ClinVar Miner

List of variants in gene CLCN5 studied for X-linked recessive disease

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001127898.4(CLCN5):c.1257C>T (p.Thr419=) rs144901347 0.00327
NM_001127898.4(CLCN5):c.2361-18A>G rs372830719 0.00057
NM_001127898.4(CLCN5):c.1297G>A (p.Val433Met) rs140514551 0.00020
NM_001127898.4(CLCN5):c.1422G>A (p.Glu474=) rs199594074 0.00015
NM_001127898.4(CLCN5):c.926G>A (p.Arg309His) rs147798092 0.00015
NM_001127898.4(CLCN5):c.1223G>A (p.Arg408His) rs781790886 0.00013
NM_001127898.4(CLCN5):c.1635G>T (p.Gln545His) rs148124447 0.00011
NM_001127898.4(CLCN5):c.315+12G>A rs781796383 0.00009
NM_001127898.4(CLCN5):c.448C>A (p.His150Asn) rs782412118 0.00004
NM_001127898.4(CLCN5):c.1466C>T (p.Pro489Leu) rs782602018 0.00003
NM_001127898.4(CLCN5):c.1537A>G (p.Ile513Val) rs1210108844 0.00002
NM_001127898.4(CLCN5):c.152G>A (p.Arg51Gln) rs1318459336 0.00001
NM_001127898.4(CLCN5):c.796A>G (p.Ile266Val) rs200953235 0.00001
NM_001127898.4(CLCN5):c.1014+1G>A rs2147594243
NM_001127898.4(CLCN5):c.1564del (p.Ser522fs) rs1933979876
NM_001127898.4(CLCN5):c.1676G>A (p.Trp559Ter) rs1557194353
NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter) rs1049618423
NM_001127898.4(CLCN5):c.871T>C (p.Cys291Arg) rs1933713383
NM_001127898.4(CLCN5):c.941C>A (p.Ser314Ter) rs151340626
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu) rs151340626
Single allele

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