ClinVar Miner

List of variants studied for neuromuscular junction disease by Undiagnosed Diseases Network, NIH

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_198576.4(AGRN):c.5023G>A (p.Gly1675Ser) rs764160563 0.00001
NC_000001.11:g.976618_977825del
NM_005055.5(RAPSN):c.264C>G (p.Asn88Lys)
NM_005677.4(COLQ):c.1212del (p.Cys405fs) rs771866680
NM_005677.4(COLQ):c.718-1276C>T rs2062220124

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