ClinVar Miner

List of variants studied for Nephronophthisis 4 by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_015102.5(NPHP4):c.12G>A (p.Trp4Ter) rs780905861
NM_015102.5(NPHP4):c.1323_1324insTCACTCCGACTCCAGTTCTGGAACTGGA (p.Thr442fs)
NM_015102.5(NPHP4):c.186_189del (p.Phe62fs)

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