ClinVar Miner

List of variants in gene CHRND studied for congenital myasthenic syndrome 3B

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser) rs142063328 0.00089
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys) rs201733876 0.00042
NM_000751.3(CHRND):c.697C>T (p.Arg233Cys) rs144063384 0.00006
NM_000751.3(CHRND):c.80G>A (p.Arg27Gln) rs143002322 0.00006
NM_000751.3(CHRND):c.1204G>A (p.Glu402Lys) rs145955590 0.00004
NM_000751.3(CHRND):c.1220G>A (p.Arg407Gln) rs563035306 0.00003
NM_000751.3(CHRND):c.132C>G (p.Pro44=) rs774771779 0.00001
NM_000751.3(CHRND):c.234G>A (p.Trp78Ter) rs121909505 0.00001
NM_000751.3(CHRND):c.236T>A (p.Ile79Lys) rs121909509 0.00001
NM_000751.3(CHRND):c.1107del (p.Ser370fs)
NM_000751.3(CHRND):c.1181A>C (p.Lys394Thr) rs1553575390
NM_000751.3(CHRND):c.1441_1443del (p.Met481del) rs2106215688
NM_000751.3(CHRND):c.188T>C (p.Leu63Pro) rs121909508
NM_000751.3(CHRND):c.238G>A (p.Glu80Lys) rs121909504
NM_000751.3(CHRND):c.248G>A (p.Trp83Ter) rs2106208285
NM_000751.3(CHRND):c.52+1G>A rs2106205676
NM_000751.3(CHRND):c.601G>A (p.Asp201Asn) rs1691584182
NM_000751.3(CHRND):c.812C>A (p.Pro271Gln) rs121909503
NM_000751.3(CHRND):c.820_820+1del rs879255564
NM_000751.3(CHRND):c.826G>A (p.Glu276Lys)
NM_000751.3(CHRND):c.961A>C (p.Thr321Pro)
NM_000751.3(CHRND):c.982_983del (p.Val328fs)

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