ClinVar Miner

List of variants in gene NPHP4 reported by OMIM

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Gene type:
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Total variants: 7
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HGVS dbSNP
NM_015102.4(NPHP4):c.1972C>T (p.Arg658Ter) rs137852923
NM_015102.4(NPHP4):c.2044C>T (p.Arg682Ter) rs137852920
NM_015102.4(NPHP4):c.2335C>T (p.Gln779Ter) rs137852922
NM_015102.4(NPHP4):c.2368G>T (p.Glu790Ter) rs137852918
NM_015102.4(NPHP4):c.2377C>T (p.Gln793Ter) rs137852919
NM_015102.4(NPHP4):c.2972T>C (p.Phe991Ser) rs28940891
NM_015102.4(NPHP4):c.3272delT (p.Val1091Glyfs)

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