ClinVar Miner

List of variants reported as pathogenic for Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 by Institute of Pediatric Research, Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_012134.3(LMOD1):c.1106C>T (p.Thr369Met)	rs1196609413	0.00001
NM_012134.3(LMOD1):c.1262G>A (p.Arg421His)	rs1487322841

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