ClinVar Miner

List of variants in gene CLCN1 reported by Mayo Clinic Laboratories, Mayo Clinic

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140 0.00457
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys) rs121912799 0.00028
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) rs150885084 0.00003
NM_000083.3(CLCN1):c.774+1G>A rs776073429 0.00002
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val) rs80356704 0.00001
NM_000083.3(CLCN1):c.1903A>G (p.Lys635Glu) rs772430525 0.00001
NM_000083.3(CLCN1):c.680T>A (p.Ile227Asn) rs1802446540
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu) rs80356700

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