ClinVar Miner

List of variants studied for intestinal motility disease by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (58):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006941.4(SOX10):c.1081G>A (p.Ala361Thr) rs770105416 0.00001
NM_053025.4(MYLK):c.535C>T (p.Arg179Ter) rs761508149 0.00001
NM_006941.4(SOX10):c.404G>A (p.Ser135Asn) rs74315515

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