ClinVar Miner

List of variants reported as likely benign for nephrolithiasis, X-linked recessive, with renal failure

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 8
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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.1223G>A (p.Arg408His) rs781790886 0.00013
NM_001127898.4(CLCN5):c.796A>G (p.Ile266Val) rs200953235 0.00001
NM_001127898.4(CLCN5):c.1185G>A (p.Leu395=)
NM_001127898.4(CLCN5):c.2390A>T (p.Asp797Val)

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