ClinVar Miner

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

Included ClinVar conditions (16):
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Gene type:
ClinVar version:
Total variants: 70
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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.925C>T (p.Arg309Cys) rs782056386 0.00006
NM_001127898.4(CLCN5):c.1426C>T (p.Arg476Cys) rs782540790 0.00005
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.1004G>T (p.Ser335Ile)
NM_001127898.4(CLCN5):c.1014+1G>A rs2147594243
NM_001127898.4(CLCN5):c.1014+3A>T
NM_001127898.4(CLCN5):c.1038A>G (p.Lys346=)
NM_001127898.4(CLCN5):c.1052C>A (p.Ser351Ter)
NM_001127898.4(CLCN5):c.1137dup (p.Phe380fs)
NM_001127898.4(CLCN5):c.1145C>A (p.Thr382Asn)
NM_001127898.4(CLCN5):c.1176del (p.Phe392fs) rs1933891368
NM_001127898.4(CLCN5):c.1185G>A (p.Leu395=)
NM_001127898.4(CLCN5):c.1244G>T (p.Arg415Leu) rs190451218
NM_001127898.4(CLCN5):c.1249C>T (p.Arg417Ter) rs797044810
NM_001127898.4(CLCN5):c.1275T>G (p.Tyr425Ter)
NM_001127898.4(CLCN5):c.1333G>A (p.Glu445Lys)
NM_001127898.4(CLCN5):c.1342C>T (p.Arg448Trp)
NM_001127898.4(CLCN5):c.1343G>A (p.Arg448Gln)
NM_001127898.4(CLCN5):c.1349G>A (p.Ser450Asn)
NM_001127898.4(CLCN5):c.1375T>C (p.Phe459Leu)
NM_001127898.4(CLCN5):c.1485C>G (p.Tyr495Ter)
NM_001127898.4(CLCN5):c.1486A>G (p.Ser496Gly)
NM_001127898.4(CLCN5):c.1561C>T (p.Pro521Ser)
NM_001127898.4(CLCN5):c.1564del (p.Ser522fs) rs1933979876
NM_001127898.4(CLCN5):c.1595G>A (p.Gly532Asp)
NM_001127898.4(CLCN5):c.1601_1602dup (p.Ala535Ter)
NM_001127898.4(CLCN5):c.1633C>T (p.Gln545Ter)
NM_001127898.4(CLCN5):c.1658G>A (p.Trp553Ter)
NM_001127898.4(CLCN5):c.1676G>A (p.Trp559Ter) rs1557194353
NM_001127898.4(CLCN5):c.1744+16A>T
NM_001127898.4(CLCN5):c.1744+1G>C
NM_001127898.4(CLCN5):c.2390A>T (p.Asp797Val)
NM_001127898.4(CLCN5):c.277_282delinsTCTC (p.Val93fs)
NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter) rs1049618423
NM_001127898.4(CLCN5):c.293G>A (p.Arg98Gln)
NM_001127898.4(CLCN5):c.298C>T (p.Arg100Trp)
NM_001127898.4(CLCN5):c.299G>A (p.Arg100Gln)
NM_001127898.4(CLCN5):c.331A>C (p.Lys111Gln)
NM_001127898.4(CLCN5):c.332A>G (p.Lys111Arg)
NM_001127898.4(CLCN5):c.342A>G (p.Thr114=)
NM_001127898.4(CLCN5):c.342del (p.Trp115fs)
NM_001127898.4(CLCN5):c.348del (p.Ala116_Leu117insTer)
NM_001127898.4(CLCN5):c.371dup (p.Ser126fs)
NM_001127898.4(CLCN5):c.416-1G>A
NM_001127898.4(CLCN5):c.416G>A (p.Gly139Asp)
NM_001127898.4(CLCN5):c.449A>G (p.His150Arg)
NM_001127898.4(CLCN5):c.567G>A (p.Trp189Ter)
NM_001127898.4(CLCN5):c.596C>G (p.Thr199Arg)
NM_001127898.4(CLCN5):c.633C>A (p.Phe211Leu)
NM_001127898.4(CLCN5):c.655C>A (p.Leu219Ile)
NM_001127898.4(CLCN5):c.673G>A (p.Val225Ile)
NM_001127898.4(CLCN5):c.772A>T (p.Lys258Ter)
NM_001127898.4(CLCN5):c.809T>C (p.Leu270Pro)
NM_001127898.4(CLCN5):c.871T>C (p.Cys291Arg) rs1933713383
NM_001127898.4(CLCN5):c.933+1G>A
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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