ClinVar Miner

List of variants studied for Nephronophthisis 14 by Genome-Nilou Lab

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001379286.1(ZNF423):c.567T>C (p.Arg189=) rs3803665 0.55755
NM_001379286.1(ZNF423):c.2697T>C (p.Cys899=) rs3803667 0.21148
NM_001379286.1(ZNF423):c.1569T>C (p.Asn523=) rs13336762 0.05236
NM_001379286.1(ZNF423):c.1869G>A (p.Pro623=) rs16947741 0.02845
NM_001379286.1(ZNF423):c.1910A>G (p.Asn637Ser) rs34214571 0.02773
NM_001379286.1(ZNF423):c.3850-9C>T rs78514142 0.02527
NM_001379286.1(ZNF423):c.3351G>A (p.Pro1117=) rs113531514 0.01899
NM_001379286.1(ZNF423):c.3361G>A (p.Ala1121Thr) rs147898137 0.01162
NM_001379286.1(ZNF423):c.711C>T (p.Arg237=) rs16947744 0.00969
NM_001379286.1(ZNF423):c.3164C>T (p.Ala1055Val) rs111229124 0.00625
NM_001379286.1(ZNF423):c.1194G>A (p.Pro398=) rs61747467 0.00494
NM_001379286.1(ZNF423):c.1986C>T (p.His662=) rs75294107 0.00469
NM_001379286.1(ZNF423):c.100+13G>A rs143660882 0.00463
NM_001379286.1(ZNF423):c.2562C>A (p.Pro854=) rs12599354 0.00459
NM_001379286.1(ZNF423):c.3291C>T (p.Tyr1097=) rs150027129 0.00408
NM_001379286.1(ZNF423):c.2328C>T (p.His776=) rs73565356 0.00402
NM_001379286.1(ZNF423):c.3226C>A (p.Leu1076Met) rs79706004 0.00398
NM_001379286.1(ZNF423):c.3393C>T (p.Pro1131=) rs61755180 0.00261
NM_001379286.1(ZNF423):c.2133G>A (p.Ser711=) rs143934881 0.00221
NM_001379286.1(ZNF423):c.2013G>A (p.Ala671=) rs143468235 0.00207
NM_001379286.1(ZNF423):c.312C>T (p.Asp104=) rs117266679 0.00178
NM_001379286.1(ZNF423):c.87C>T (p.Ser29=) rs116537749 0.00166
NM_001379286.1(ZNF423):c.1131C>T (p.Ser377=) rs369662414 0.00005
NM_001379286.1(ZNF423):c.3517-18T>C rs377719857 0.00004
NM_001379286.1(ZNF423):c.2535C>T (p.Thr845=) rs77996576

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