ClinVar Miner

List of variants reported as pathogenic for Nephronophthisis-like nephropathy 1 by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_022098.4(XPNPEP3):c.1357G>T (p.Gly453Cys) rs267607179
NM_022098.4(XPNPEP3):c.720dup (p.Gln241fs) rs2146254238
NM_022098.4(XPNPEP3):c.931_934del (p.Asn311fs) rs2146270895

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