ClinVar Miner

List of variants in gene combination CLCN1, LOC123956257 reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.2024A>C (p.Gln675Pro) rs768582911 0.00005
NM_000083.3(CLCN1):c.2012T>G (p.Leu671Arg) rs772516304 0.00003
NM_000083.3(CLCN1):c.2047G>C (p.Glu683Gln) rs760351874 0.00003
NM_000083.3(CLCN1):c.1955T>C (p.Val652Ala) rs1803209631 0.00002
NM_000083.3(CLCN1):c.2026G>C (p.Glu676Gln) rs750187204 0.00002
NM_000083.3(CLCN1):c.2087G>A (p.Gly696Glu) rs1243583996 0.00002
NM_000083.3(CLCN1):c.2108G>C (p.Gly703Ala) rs1428234081 0.00002
NM_000083.3(CLCN1):c.1976C>T (p.Ala659Val) rs1336908700 0.00001
NM_000083.3(CLCN1):c.1988G>A (p.Arg663His) rs1212604561 0.00001
NM_000083.3(CLCN1):c.2000C>T (p.Pro667Leu) rs1424224517 0.00001
NM_000083.3(CLCN1):c.2015G>C (p.Arg672Pro) rs777888721 0.00001
NM_000083.3(CLCN1):c.2056T>G (p.Tyr686Asp) rs1359747708 0.00001
NM_000083.3(CLCN1):c.1931A>G (p.Asp644Gly)
NM_000083.3(CLCN1):c.1936A>T (p.Met646Leu) rs1156766492
NM_000083.3(CLCN1):c.1948G>A (p.Gly650Ser) rs1181586555
NM_000083.3(CLCN1):c.1948G>T (p.Gly650Cys)
NM_000083.3(CLCN1):c.1949G>A (p.Gly650Asp)
NM_000083.3(CLCN1):c.1955_1966del (p.Val652_Ser655del) rs1803209334
NM_000083.3(CLCN1):c.1961G>T (p.Arg654Leu) rs1322769496
NM_000083.3(CLCN1):c.1966G>A (p.Glu656Lys) rs1224200077
NM_000083.3(CLCN1):c.1978C>A (p.Leu660Ile) rs1803210699
NM_000083.3(CLCN1):c.1981C>T (p.Leu661=)
NM_000083.3(CLCN1):c.1983G>T (p.Leu661=)
NM_000083.3(CLCN1):c.2005C>T (p.Arg669Cys)
NM_000083.3(CLCN1):c.2029A>G (p.Met677Val)
NM_000083.3(CLCN1):c.2048A>C (p.Glu683Ala)
NM_000083.3(CLCN1):c.2050_2051delinsGG (p.Leu684Gly) rs1803216360
NM_000083.3(CLCN1):c.2083G>C (p.Glu695Gln)
NM_000083.3(CLCN1):c.2089C>A (p.Leu697Ile) rs2116384407
NM_000083.3(CLCN1):c.2099C>A (p.Ala700Glu)
NM_000083.3(CLCN1):c.2111G>A (p.Arg704Gln) rs984151770
NM_000083.3(CLCN1):c.2114C>T (p.Pro705Leu)

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