ClinVar Miner

List of variants reported as likely benign for Joubert syndrome 20; Meckel syndrome, type 11 by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 149
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HGVS dbSNP gnomAD frequency
NC_000016.10:g.75556260C>T rs115739052 0.01305
NM_001077418.3(TMEM231):c.927C>A (p.Asp309Glu) rs186119649 0.00179
NM_001077418.3(TMEM231):c.928T>G (p.Leu310Val) rs182008317 0.00176
NM_001077418.3(TMEM231):c.470C>T (p.Ala157Val) rs201036290 0.00166
NM_001077418.3(TMEM231):c.-40C>G rs114889548 0.00165
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr) rs199813223 0.00141
NM_001077418.3(TMEM231):c.719A>G (p.Asp240Gly) rs146210288 0.00133
NM_001077418.3(TMEM231):c.583-20A>T rs375984875 0.00128
NM_001077418.3(TMEM231):c.95C>T (p.Ala32Val) rs201181950 0.00105
NM_001077418.3(TMEM231):c.-15C>T rs138060715 0.00096
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=) rs377440297 0.00058
NM_001077418.3(TMEM231):c.309+13C>A rs146945255 0.00038
NM_001077418.3(TMEM231):c.7C>G (p.Leu3Val) rs371709760 0.00037
NM_001077418.3(TMEM231):c.140-15C>T rs201518524 0.00028
NM_001077418.3(TMEM231):c.79C>T (p.Leu27=) rs370607340 0.00026
NM_001077418.3(TMEM231):c.139+42G>A rs375718217 0.00022
NM_001077418.3(TMEM231):c.438+12C>T rs1000442477 0.00018
NM_001077418.3(TMEM231):c.243C>T (p.Leu81=) rs371752653 0.00014
NM_001077418.3(TMEM231):c.749G>A (p.Arg250Gln) rs369010440 0.00014
NM_001077418.3(TMEM231):c.583-9G>A rs371734111 0.00010
NM_001077418.3(TMEM231):c.798A>G (p.Val266=) rs772364535 0.00009
NM_001077418.3(TMEM231):c.216G>T (p.Leu72=) rs751840699 0.00008
NM_001077418.3(TMEM231):c.870C>T (p.Phe290=) rs541349898 0.00007
NM_001077418.3(TMEM231):c.624C>T (p.Tyr208=) rs368594302 0.00006
NM_001077418.3(TMEM231):c.665-19G>A rs200581224 0.00006
NM_001077418.3(TMEM231):c.210G>T (p.Val70=) rs757361739 0.00005
NM_001077418.3(TMEM231):c.663C>T (p.Asn221=) rs776287219 0.00005
NM_001077418.3(TMEM231):c.240C>T (p.Phe80=) rs760694007 0.00004
NM_001077418.3(TMEM231):c.303C>T (p.Leu101=) rs778118263 0.00004
NM_001077418.3(TMEM231):c.309+12C>A rs561475784 0.00004
NM_001077418.3(TMEM231):c.665-10T>C rs201237881 0.00004
NM_001077418.3(TMEM231):c.139+27C>T rs773052053 0.00003
NM_001077418.3(TMEM231):c.140-35C>T rs750621210 0.00003
NM_001077418.3(TMEM231):c.399C>T (p.Leu133=) rs534627748 0.00003
NM_001077418.3(TMEM231):c.438+13G>A rs780849828 0.00003
NM_001077418.3(TMEM231):c.759G>A (p.Val253=) rs1020757759 0.00003
NM_001077418.3(TMEM231):c.771-4A>C rs199768195 0.00003
NM_001077418.3(TMEM231):c.780A>G (p.Pro260=) rs1412070252 0.00003
NM_001077418.3(TMEM231):c.309+20G>T rs1186787656 0.00002
NM_001077418.3(TMEM231):c.310-17C>T rs752375895 0.00002
NM_001077418.3(TMEM231):c.387G>A (p.Thr129=) rs774761408 0.00002
NM_001077418.3(TMEM231):c.456G>A (p.Val152=) rs571562822 0.00002
NM_001077418.3(TMEM231):c.549G>A (p.Pro183=) rs748111030 0.00002
NM_001077418.3(TMEM231):c.582+9G>A rs1266194059 0.00002
NM_001077418.3(TMEM231):c.939G>A (p.Glu313=) rs780494581 0.00002
NM_001077418.3(TMEM231):c.130C>T (p.Arg44Trp) rs750674092 0.00001
NM_001077418.3(TMEM231):c.139+24C>T rs746632596 0.00001
NM_001077418.3(TMEM231):c.139+39G>T rs1448302846 0.00001
NM_001077418.3(TMEM231):c.140-29C>T rs1485216317 0.00001
NM_001077418.3(TMEM231):c.171G>A (p.Glu57=) rs1411415247 0.00001
NM_001077418.3(TMEM231):c.202C>T (p.Leu68=) rs781250253 0.00001
NM_001077418.3(TMEM231):c.225C>G (p.Pro75=) rs1444231443 0.00001
NM_001077418.3(TMEM231):c.246C>A (p.Ala82=) rs367951920 0.00001
NM_001077418.3(TMEM231):c.330C>T (p.Asn110=) rs980137242 0.00001
NM_001077418.3(TMEM231):c.439-11A>G rs754174079 0.00001
NM_001077418.3(TMEM231):c.453C>T (p.Leu151=) rs2080678783 0.00001
NM_001077418.3(TMEM231):c.492T>C (p.Pro164=) rs754580796 0.00001
NM_001077418.3(TMEM231):c.510A>G (p.Leu170=) rs1335128278 0.00001
NM_001077418.3(TMEM231):c.513C>T (p.Tyr171=) rs751631216 0.00001
NM_001077418.3(TMEM231):c.526C>T (p.Leu176=) rs775613602 0.00001
NM_001077418.3(TMEM231):c.583-10C>T rs774265542 0.00001
NM_001077418.3(TMEM231):c.597C>T (p.Asn199=) rs959165450 0.00001
NM_001077418.3(TMEM231):c.665-13G>C rs1384283174 0.00001
NM_001077418.3(TMEM231):c.672C>T (p.Thr224=) rs769897831 0.00001
NM_001077418.3(TMEM231):c.714C>T (p.Ala238=) rs750043051 0.00001
NM_001077418.3(TMEM231):c.73C>G (p.Leu25Val) rs951457866 0.00001
NM_001077418.3(TMEM231):c.770+18G>T rs1413880610 0.00001
NM_001077418.3(TMEM231):c.771-6C>A rs1160382019 0.00001
NM_001077418.3(TMEM231):c.819T>C (p.Tyr273=) rs2507319245 0.00001
NM_001077418.3(TMEM231):c.915G>A (p.Thr305=) rs759314500 0.00001
NM_001077418.3(TMEM231):c.930G>A (p.Leu310=) rs1362332031 0.00001
NC_000016.9:g.(?_75573872)_(75579413_?)dup
NC_000016.9:g.(?_75573891)_(75579393_?)dup
NC_000016.9:g.(?_75573892)_(75579403_?)dup
NC_000016.9:g.(?_75573892)_(75579413_?)dup
NM_001077418.3(TMEM231):c.-30C>A rs2080810566
NM_001077418.3(TMEM231):c.139+12C>T rs937269706
NM_001077418.3(TMEM231):c.139+39G>C rs1448302846
NM_001077418.3(TMEM231):c.139+48G>T rs1234390023
NM_001077418.3(TMEM231):c.139+9G>A rs2507348104
NM_001077418.3(TMEM231):c.140-2A>G rs1216670609
NM_001077418.3(TMEM231):c.140-47C>G rs369232571
NM_001077418.3(TMEM231):c.140-5C>T rs2080806146
NM_001077418.3(TMEM231):c.177G>A (p.Pro59=) rs78196225
NM_001077418.3(TMEM231):c.198G>A (p.Gln66=) rs1216848356
NM_001077418.3(TMEM231):c.1A>G (p.Met1Val) rs1180066154
NM_001077418.3(TMEM231):c.204G>C (p.Leu68=) rs2507347569
NM_001077418.3(TMEM231):c.213C>A (p.Ala71=)
NM_001077418.3(TMEM231):c.219C>T (p.Leu73=) rs2080804884
NM_001077418.3(TMEM231):c.225C>T (p.Pro75=) rs1444231443
NM_001077418.3(TMEM231):c.234C>T (p.Asp78=) rs1219610835
NM_001077418.3(TMEM231):c.243C>A (p.Leu81=) rs371752653
NM_001077418.3(TMEM231):c.255G>T (p.Thr85=) rs2151710642
NM_001077418.3(TMEM231):c.28C>A (p.Pro10Thr) rs761239299
NM_001077418.3(TMEM231):c.28C>G (p.Pro10Ala) rs761239299
NM_001077418.3(TMEM231):c.303C>G (p.Leu101=) rs778118263
NM_001077418.3(TMEM231):c.309+12C>T rs561475784
NM_001077418.3(TMEM231):c.309+13C>T
NM_001077418.3(TMEM231):c.309+7G>A
NM_001077418.3(TMEM231):c.310-15G>C rs2151703201
NM_001077418.3(TMEM231):c.310-4C>G rs2080685365
NM_001077418.3(TMEM231):c.345G>A (p.Thr115=) rs2080684813
NM_001077418.3(TMEM231):c.364C>T (p.Leu122=) rs1297518145
NM_001077418.3(TMEM231):c.37C>T (p.Arg13Cys) rs775329522
NM_001077418.3(TMEM231):c.390G>A (p.Glu130=) rs2507329824
NM_001077418.3(TMEM231):c.396T>C (p.Val132=) rs1187444555
NM_001077418.3(TMEM231):c.399C>G (p.Leu133=) rs534627748
NM_001077418.3(TMEM231):c.415C>T (p.Leu139=) rs1285133676
NM_001077418.3(TMEM231):c.417G>C (p.Leu139=) rs2080683492
NM_001077418.3(TMEM231):c.438+13G>T rs780849828
NM_001077418.3(TMEM231):c.439-20G>T rs1228087892
NM_001077418.3(TMEM231):c.453C>A (p.Leu151=)
NM_001077418.3(TMEM231):c.465C>T (p.Ser155=)
NM_001077418.3(TMEM231):c.477C>T (p.Leu159=)
NM_001077418.3(TMEM231):c.49G>A (p.Ala17Thr)
NM_001077418.3(TMEM231):c.508T>C (p.Leu170=) rs768202616
NM_001077418.3(TMEM231):c.582+16_582+17delinsGA rs2507328620
NM_001077418.3(TMEM231):c.582+17T>G rs2738801
NM_001077418.3(TMEM231):c.582+8C>T rs144252983
NM_001077418.3(TMEM231):c.588C>T (p.Ser196=)
NM_001077418.3(TMEM231):c.600G>A (p.Gly200=) rs771407579
NM_001077418.3(TMEM231):c.633C>T (p.Thr211=)
NM_001077418.3(TMEM231):c.651C>T (p.Tyr217=)
NM_001077418.3(TMEM231):c.665-11T>C rs886039807
NM_001077418.3(TMEM231):c.665-19G>T rs200581224
NM_001077418.3(TMEM231):c.665-9G>T
NM_001077418.3(TMEM231):c.675C>A (p.Val225=) rs1260355664
NM_001077418.3(TMEM231):c.684T>C (p.Asp228=) rs2507321890
NM_001077418.3(TMEM231):c.702G>A (p.Leu234=) rs2080627660
NM_001077418.3(TMEM231):c.70G>A (p.Ala24Thr) rs1344067825
NM_001077418.3(TMEM231):c.711G>A (p.Arg237=) rs2151698799
NM_001077418.3(TMEM231):c.726A>G (p.Pro242=) rs1597037231
NM_001077418.3(TMEM231):c.744C>T (p.Ile248=) rs2507321621
NM_001077418.3(TMEM231):c.750A>G (p.Arg250=)
NM_001077418.3(TMEM231):c.770+20G>A rs2080625721
NM_001077418.3(TMEM231):c.771-17T>G rs2080606406
NM_001077418.3(TMEM231):c.771-18C>T
NM_001077418.3(TMEM231):c.771-4A>G rs199768195
NM_001077418.3(TMEM231):c.792G>A (p.Glu264=) rs754352443
NM_001077418.3(TMEM231):c.843C>G (p.Leu281=) rs2080604225
NM_001077418.3(TMEM231):c.852T>C (p.Phe284=) rs2080604104
NM_001077418.3(TMEM231):c.888G>A (p.Val296=) rs375293770
NM_001077418.3(TMEM231):c.924A>G (p.Gly308=)
NM_001077418.3(TMEM231):c.927C>T (p.Asp309=) rs186119649
NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal)
NM_001077418.3(TMEM231):c.933T>C (p.Cys311=)
NM_001077418.3(TMEM231):c.943T>C (p.Leu315=) rs1459683666
NM_001077418.3(TMEM231):c.94G>A (p.Ala32Thr) rs2507348279
NM_001077418.3(TMEM231):c.97C>G (p.Leu33Val) rs2507348271

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