ClinVar Miner

List of variants reported as benign for Jeune thoracic dystrophy; Nephronophthisis by Invitae

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_024753.5(TTC21B):c.826A>G (p.Thr276Ala) rs7592429 0.95088
NM_024753.5(TTC21B):c.601G>A (p.Val201Met) rs1432273 0.61903
NM_024753.5(TTC21B):c.1695C>T (p.Tyr565=) rs6750044 0.34586
NM_024753.5(TTC21B):c.2175T>C (p.Phe725=) rs10176588 0.33260
NM_024753.5(TTC21B):c.2211+13A>G rs73969727 0.04080
NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe) rs2163649 0.01776
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=) rs79656636 0.01606
NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser) rs16851307 0.01408
NM_024753.5(TTC21B):c.2385G>C (p.Leu795=) rs80225158 0.01377
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.2742C>T (p.Cys914=) rs73018799 0.01072
NM_024753.5(TTC21B):c.2462-19A>C rs146509360 0.00946
NM_024753.5(TTC21B):c.1965G>A (p.Arg655=) rs16822802 0.00798
NM_024753.5(TTC21B):c.1870A>G (p.Ile624Val) rs77106136 0.00617
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.2950+16T>C rs142565795 0.00455
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.3416T>C (p.Val1139Ala) rs149454830 0.00267
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys) rs139441507 0.00235
NM_024753.5(TTC21B):c.262+16G>A rs192525886 0.00179
NM_024753.5(TTC21B):c.1867T>C (p.Leu623=) rs140107312 0.00129
NM_024753.5(TTC21B):c.588T>G (p.Gly196=) rs144458105 0.00111
NM_024753.5(TTC21B):c.3874-14T>C rs200347449 0.00096
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser) rs149925563 0.00071
NM_024753.5(TTC21B):c.2815C>T (p.Arg939Trp) rs151227843 0.00036
NM_024753.5(TTC21B):c.3914A>G (p.Asp1305Gly) rs147540469 0.00031
NM_024753.5(TTC21B):c.783G>T (p.Gly261=) rs200255917 0.00009
NM_024753.5(TTC21B):c.2100G>A (p.Lys700=) rs368202285 0.00003
NM_024753.5(TTC21B):c.2258C>T (p.Pro753Leu) rs539769126 0.00001
NM_024753.5(TTC21B):c.481A>G (p.Thr161Ala) rs568969576 0.00001
NM_024753.5(TTC21B):c.114C>G (p.Val38=) rs34486024
NM_024753.5(TTC21B):c.1900-17del rs1312196560
NM_024753.5(TTC21B):c.21+2TGAGCGGG[5] rs59477041
NM_024753.5(TTC21B):c.21+33_21+34insGCGGGTGAGCGG rs569432248
NM_024753.5(TTC21B):c.2569-10dup rs144600502
NM_024753.5(TTC21B):c.3519T>C (p.Thr1173=) rs115504901
NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=) rs115504901
NM_024753.5(TTC21B):c.430-5del
NM_024753.5(TTC21B):c.553-13del rs749999474
NM_024753.5(TTC21B):c.711-8del
NM_024753.5(TTC21B):c.863T>C (p.Phe288Ser)
NM_024753.5(TTC21B):c.895-9del
NM_024753.5(TTC21B):c.895-9dup rs752610067

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