ClinVar Miner

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

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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter) rs79746977 0.00009
NM_024753.5(TTC21B):c.2913dup (p.Val972fs) rs867205119 0.00005
NM_024753.5(TTC21B):c.172C>T (p.Arg58Ter) rs771232897 0.00004
NM_024753.5(TTC21B):c.2209G>T (p.Glu737Ter) rs748663904 0.00004
NM_024753.5(TTC21B):c.1231C>T (p.Arg411Ter) rs185089786 0.00003
NM_024753.5(TTC21B):c.2758-2A>G rs766132877 0.00003
NM_024753.5(TTC21B):c.1715C>A (p.Ser572Ter) rs369159801 0.00002
NM_024753.5(TTC21B):c.2482dup (p.Met828fs) rs906032090 0.00002
NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter) rs1183062277 0.00001
NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter) rs779134983 0.00001
NM_024753.5(TTC21B):c.2818C>T (p.Gln940Ter) rs1489728717 0.00001
NM_024753.5(TTC21B):c.684G>A (p.Trp228Ter) rs777162250 0.00001
NC_000002.11:g.(?_165946660)_(167168266_?)del
NC_000002.11:g.(?_166744769)_(166747518_?)del
NC_000002.12:g.165943342del
NM_024753.5(TTC21B):c.1001del (p.Met334fs)
NM_024753.5(TTC21B):c.1007_1025del (p.Leu336fs) rs2105344608
NM_024753.5(TTC21B):c.1087G>T (p.Gly363Ter)
NM_024753.5(TTC21B):c.1088-1G>A
NM_024753.5(TTC21B):c.10C>T (p.Gln4Ter)
NM_024753.5(TTC21B):c.1126_1127insGT (p.Asp376fs)
NM_024753.5(TTC21B):c.1138C>T (p.Gln380Ter) rs749794837
NM_024753.5(TTC21B):c.1162C>T (p.Gln388Ter)
NM_024753.5(TTC21B):c.1263_1266dup (p.Leu423fs) rs2105343139
NM_024753.5(TTC21B):c.1320del (p.Phe440fs) rs775836730
NM_024753.5(TTC21B):c.1346T>G (p.Leu449Ter) rs769816345
NM_024753.5(TTC21B):c.140del (p.Thr47fs)
NM_024753.5(TTC21B):c.1448_1458del (p.Thr483fs)
NM_024753.5(TTC21B):c.1479_1482del (p.Thr494fs)
NM_024753.5(TTC21B):c.1575T>G (p.Tyr525Ter) rs199559023
NM_024753.5(TTC21B):c.1725_1726del (p.Lys575fs)
NM_024753.5(TTC21B):c.1840del (p.Ser614fs)
NM_024753.5(TTC21B):c.1860_1863del (p.Phe620fs)
NM_024753.5(TTC21B):c.1942dup (p.Ser648fs) rs2105324384
NM_024753.5(TTC21B):c.1947_1948del (p.Thr650fs)
NM_024753.5(TTC21B):c.2070del (p.Arg691fs)
NM_024753.5(TTC21B):c.2297_2298del (p.Leu766fs)
NM_024753.5(TTC21B):c.2337T>G (p.Tyr779Ter) rs1559053862
NM_024753.5(TTC21B):c.244_248del (p.Lys82fs)
NM_024753.5(TTC21B):c.2455G>T (p.Glu819Ter)
NM_024753.5(TTC21B):c.2521del (p.Tyr841fs)
NM_024753.5(TTC21B):c.2572C>T (p.Arg858Ter) rs895624584
NM_024753.5(TTC21B):c.2614C>T (p.Gln872Ter)
NM_024753.5(TTC21B):c.2635C>T (p.Gln879Ter)
NM_024753.5(TTC21B):c.264_267dupTAGA rs748514860
NM_024753.5(TTC21B):c.2692C>T (p.Arg898Ter) rs1685569880
NM_024753.5(TTC21B):c.2979_2982del (p.Asp994fs)
NM_024753.5(TTC21B):c.3044del (p.Arg1015fs) rs2105292027
NM_024753.5(TTC21B):c.3045del (p.Asn1016fs) rs2105292022
NM_024753.5(TTC21B):c.3076C>T (p.Gln1026Ter) rs2105291990
NM_024753.5(TTC21B):c.3112G>T (p.Glu1038Ter) rs2105291727
NM_024753.5(TTC21B):c.3130C>T (p.Arg1044Ter)
NM_024753.5(TTC21B):c.3144del (p.Ala1049fs) rs2105291679
NM_024753.5(TTC21B):c.3164G>A (p.Trp1055Ter) rs772612775
NM_024753.5(TTC21B):c.3380dup (p.Asn1127fs)
NM_024753.5(TTC21B):c.3383_3384del (p.Tyr1128fs) rs1553506530
NM_024753.5(TTC21B):c.3533dup (p.Asn1178fs)
NM_024753.5(TTC21B):c.3592_3596del (p.Lys1198fs)
NM_024753.5(TTC21B):c.3641_3657del (p.Asp1214fs)
NM_024753.5(TTC21B):c.36C>G (p.Tyr12Ter)
NM_024753.5(TTC21B):c.3702T>G (p.Tyr1234Ter)
NM_024753.5(TTC21B):c.3731_3732del (p.Glu1244fs)
NM_024753.5(TTC21B):c.433del (p.His145fs)
NM_024753.5(TTC21B):c.459del (p.Thr154fs)
NM_024753.5(TTC21B):c.913del (p.Ile305fs)
NM_024753.5(TTC21B):c.996C>A (p.Tyr332Ter)

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