ClinVar Miner

List of variants reported as benign for intestinal motility disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001122659.3(EDNRB):c.552T>C (p.Ser184=) rs5348 0.98435
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_001110556.2(FLNA):c.7553-18A>G rs112682871 0.01979
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194 0.01499
NM_053025.4(MYLK):c.383C>T (p.Ala128Val) rs143896146 0.00747
NM_053025.4(MYLK):c.5079G>A (p.Lys1693=) rs141467675 0.00575
NM_001110556.2(FLNA):c.882A>G (p.Thr294=) rs184864998 0.00373
NM_000514.4(GDNF):c.540A>G (p.Arg180=) rs112417561 0.00329
NM_001110556.2(FLNA):c.7756+8A>G rs201663443 0.00057
NM_207034.3(EDN3):c.426G>A (p.Ala142=) rs187049336 0.00035
NM_053025.4(MYLK):c.3075C>T (p.Pro1025=) rs144885184 0.00016
NM_020975.6(RET):c.2268C>T (p.Ala756=) rs370791179 0.00001

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