ClinVar Miner

List of variants reported as pathogenic for constipation disorder

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
46;XX;t(19;21)(q13.3;q22.3)dn
46;XX;t(7;13)(p13;q34)dn
46;XY;t(9;11)(q34;p11.2)dn
NC_000005.10:g.139189727_139201554del
NM_000494.4(COL17A1):c.4145_4148del (p.Glu1382fs) rs765243124
NM_001122764.3(PPOX):c.1353T>G (p.Tyr451Ter) rs148292941
NM_001375380.1(EBF3):c.280_283del (p.Glu94fs) rs1057519521
NM_012479.4(YWHAG):c.169C>T (p.Arg57Cys) rs1583981736
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832

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