ClinVar Miner

List of variants reported as likely pathogenic for Nephrocalcinosis; Nephrolithiasis by Yale Center for Mendelian Genomics,Yale University

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Total variants: 16
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HGVS dbSNP
NM_000030.3(AGXT):c.1079G>C (p.Arg360Pro) rs180177161
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg) rs121908523
NM_000030.3(AGXT):c.481G>A (p.Gly161Ser) rs180177227
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) rs121908525
NM_000341.4(SLC3A1):c.592del (p.Ala198fs) rs778000327
NM_001184832.2(SLC12A1):c.1163del (p.Phe388fs) rs779588655
NM_001184832.2(SLC12A1):c.1424G>A (p.Cys475Tyr) rs1555466999
NM_001184832.2(SLC12A1):c.769G>A (p.Gly257Ser) rs896545456
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro) rs121964880
NM_003052.5(SLC34A1):c.1204G>C (p.Gly402Arg) rs376131751
NM_003052.5(SLC34A1):c.1724C>T (p.Thr575Ile) rs201331677
NM_003052.5(SLC34A1):c.644+1G>A rs201304511
NM_006580.3(CLDN16):c.695T>G (p.Phe232Cys) rs104893726
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_012203.2(GRHPR):c.404+5G>A rs757796926
NM_148960.3(CLDN19):c.535G>A (p.Gly179Ser) rs145591298

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