ClinVar Miner

List of variants reported as likely benign for Nephronophthisis 12

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831 0.01296
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646 0.01295
NM_024753.5(TTC21B):c.2322+3A>G rs79037278 0.00575
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_024753.5(TTC21B):c.*1225C>T rs60399987 0.00424
NM_024753.5(TTC21B):c.*656G>A rs180737925 0.00376
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004 0.00356
NM_024753.5(TTC21B):c.1571C>G (p.Ser524Cys) rs145436538 0.00355
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys) rs139441507 0.00235
NM_024753.5(TTC21B):c.*1087A>T rs150328867 0.00213
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His) rs76726265 0.00161
NM_024753.5(TTC21B):c.*847A>C rs138656848 0.00058
NM_024753.5(TTC21B):c.*516C>T rs185578095 0.00047

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