ClinVar Miner

List of variants reported as likely pathogenic for cryptosporidiosis-chronic cholangitis-liver disease syndrome

Included ClinVar conditions (2):

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_181078.3(IL21R):c.352+1G>C	rs2087297703
NM_181078.3(IL21R):c.563del (p.Leu188fs)	rs2087444941
NM_181078.3(IL21R):c.686-2A>G
NM_181078.3(IL21R):c.946del (p.Val316fs)	rs2141318549

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