ClinVar Miner

List of variants studied for Thomsen and Becker disease by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000083.3(CLCN1):c.180+3A>T rs202217420 0.00019
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703 0.00003
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696 0.00001
NM_000083.3(CLCN1):c.908G>A (p.Trp303Ter) rs1229066957 0.00001
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000083.3(CLCN1):c.1438C>T (p.Pro480Ser) rs80356695
NM_000083.3(CLCN1):c.1568G>T (p.Gly523Val) rs1460714146

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