ClinVar Miner

List of variants reported for Nephronophthisis-like nephropathy 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_022098.4(XPNPEP3):c.111A>G (p.Pro37=) rs1894658 0.01750
NM_022098.4(XPNPEP3):c.1056-9C>T rs116758113 0.00160
NM_022098.4(XPNPEP3):c.970-9T>C rs117568682 0.00066
NM_022098.4(XPNPEP3):c.1244G>A (p.Arg415Gln) rs79385822 0.00051
NM_022098.4(XPNPEP3):c.1357+19A>G rs139881907 0.00024
NM_022098.4(XPNPEP3):c.793-18C>T rs201917593 0.00021
NM_022098.4(XPNPEP3):c.366G>A (p.Leu122=) rs201469402 0.00017
NM_022098.4(XPNPEP3):c.1516G>A (p.Ala506Thr) rs139592817 0.00012
NM_022098.4(XPNPEP3):c.1313G>A (p.Arg438His) rs766361465 0.00007
NM_022098.4(XPNPEP3):c.119G>A (p.Arg40Lys) rs761750025 0.00005
NM_022098.4(XPNPEP3):c.969+6T>C rs371875441 0.00003
NM_022098.4(XPNPEP3):c.891T>G (p.Ile297Met) rs746834434 0.00002
NM_022098.4(XPNPEP3):c.970-4C>T rs752602313 0.00002
NM_022098.4(XPNPEP3):c.272G>A (p.Ser91Asn) rs1017989325 0.00001
NM_022098.4(XPNPEP3):c.645del (p.Ser216fs) rs751910922 0.00001

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