ClinVar Miner

List of variants reported as likely benign for Townes-Brocks syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_002968.3(SALL1):c.3222G>A (p.Ala1074=) rs61731131 0.00636
NM_001079520.2(DACT1):c.930G>C (p.Gln310His) rs139223977 0.00212
NM_001079520.2(DACT1):c.769G>A (p.Glu257Lys) rs77323631 0.00146
NM_002968.3(SALL1):c.3942C>T (p.Phe1314=) rs189411650 0.00141
NM_002968.3(SALL1):c.264C>T (p.Ser88=) rs143501736 0.00140
NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu) rs149302006 0.00118
NM_002968.3(SALL1):c.478G>A (p.Gly160Ser) rs199760974 0.00093
NM_002968.3(SALL1):c.1903C>T (p.Pro635Ser) rs61731136 0.00058
NM_002968.3(SALL1):c.3310C>G (p.Pro1104Ala) rs547153228 0.00048
NM_002968.3(SALL1):c.2331C>T (p.Asn777=) rs144747142 0.00045
NM_002968.3(SALL1):c.3120A>G (p.Thr1040=) rs146655918 0.00038
NM_002968.3(SALL1):c.1322C>A (p.Thr441Asn) rs76275412 0.00034
NM_002968.3(SALL1):c.477C>A (p.Ser159Arg) rs757737676 0.00028
NM_002968.3(SALL1):c.387C>T (p.Ala129=) rs147647889 0.00027
NM_002968.3(SALL1):c.3729C>T (p.Asn1243=) rs148612488 0.00024
NM_002968.3(SALL1):c.3750C>T (p.Asn1250=) rs142653419 0.00023
NM_002968.3(SALL1):c.2752G>A (p.Ala918Thr) rs144782810 0.00018
NM_002968.3(SALL1):c.3759C>T (p.Ser1253=) rs138153478 0.00016
NM_002968.3(SALL1):c.3964G>A (p.Val1322Ile) rs199701845 0.00011
NM_002968.3(SALL1):c.1227C>T (p.Ile409=) rs368412604 0.00009
NM_002968.3(SALL1):c.3665C>T (p.Ala1222Val) rs578198178 0.00009
NM_002968.3(SALL1):c.3330T>C (p.Ser1110=) rs374166565 0.00008
NM_002968.3(SALL1):c.1953C>T (p.Pro651=) rs147169088 0.00007
NM_002968.3(SALL1):c.3270C>T (p.Asn1090=) rs143637930 0.00007
NM_002968.3(SALL1):c.2223G>A (p.Arg741=) rs1430868205 0.00006
NM_002968.3(SALL1):c.3084A>G (p.Pro1028=) rs377643763 0.00006
NM_002968.3(SALL1):c.351C>T (p.Asn117=) rs145806303 0.00006
NM_002968.3(SALL1):c.618G>A (p.Ala206=) rs773443491 0.00006
NM_002968.3(SALL1):c.63C>T (p.Leu21=) rs536125319 0.00006
NM_002968.3(SALL1):c.649G>A (p.Gly217Ser) rs140165636 0.00006
NM_002968.3(SALL1):c.484G>A (p.Gly162Ser) rs754902005 0.00005
NM_002968.3(SALL1):c.2565T>G (p.Pro855=) rs778734691 0.00004
NM_002968.3(SALL1):c.3231C>T (p.Pro1077=) rs148808830 0.00004
NM_002968.3(SALL1):c.3327G>A (p.Pro1109=) rs375357921 0.00004
NM_002968.3(SALL1):c.3957G>A (p.Lys1319=) rs1366906259 0.00004
NM_002968.3(SALL1):c.1565C>T (p.Thr522Met) rs200304033 0.00003
NM_002968.3(SALL1):c.219C>T (p.Ile73=) rs774483464 0.00003
NM_002968.3(SALL1):c.3199C>T (p.Leu1067Phe) rs1375814966 0.00003
NM_002968.3(SALL1):c.3771C>T (p.Asn1257=) rs145423593 0.00003
NM_002968.3(SALL1):c.3720G>A (p.Ala1240=) rs185996794 0.00002
NM_002968.3(SALL1):c.1014T>G (p.Ser338=) rs960886445 0.00001
NM_002968.3(SALL1):c.1398C>A (p.Ile466=) rs758330038 0.00001
NM_002968.3(SALL1):c.220G>A (p.Val74Ile) rs529479120 0.00001
NM_002968.3(SALL1):c.2259C>T (p.Tyr753=) rs1015061989 0.00001
NM_002968.3(SALL1):c.537C>T (p.Leu179=) rs200539812 0.00001
NM_002968.2(SALL1):c.76+10C>G rs758439424
NM_002968.3(SALL1):c.*1112dup rs551203456
NM_002968.3(SALL1):c.*83GCCCC[1] rs374006676
NM_002968.3(SALL1):c.1030T>C (p.Leu344=)
NM_002968.3(SALL1):c.1135G>T (p.Ala379Ser)
NM_002968.3(SALL1):c.1199C>T (p.Ser400Leu)
NM_002968.3(SALL1):c.1225A>G (p.Ile409Val)
NM_002968.3(SALL1):c.1350G>A (p.Lys450=)
NM_002968.3(SALL1):c.1362C>T (p.Cys454=)
NM_002968.3(SALL1):c.1566G>A (p.Thr522=)
NM_002968.3(SALL1):c.1665C>T (p.Val555=) rs201565524
NM_002968.3(SALL1):c.1716G>A (p.Thr572=)
NM_002968.3(SALL1):c.1728C>A (p.Ala576=)
NM_002968.3(SALL1):c.1854A>G (p.Pro618=) rs2143444187
NM_002968.3(SALL1):c.1871G>A (p.Ser624Asn)
NM_002968.3(SALL1):c.2046A>G (p.Ser682=)
NM_002968.3(SALL1):c.2070G>A (p.Lys690=)
NM_002968.3(SALL1):c.2105C>T (p.Ala702Val)
NM_002968.3(SALL1):c.2181A>G (p.Thr727=) rs1962388882
NM_002968.3(SALL1):c.2356C>A (p.Arg786=)
NM_002968.3(SALL1):c.2436C>A (p.Ser812=)
NM_002968.3(SALL1):c.243A>C (p.Pro81=)
NM_002968.3(SALL1):c.2460C>T (p.Asp820=)
NM_002968.3(SALL1):c.246C>T (p.Pro82=)
NM_002968.3(SALL1):c.2504G>A (p.Gly835Asp)
NM_002968.3(SALL1):c.2511C>A (p.Ile837=)
NM_002968.3(SALL1):c.2535C>T (p.Asp845=)
NM_002968.3(SALL1):c.2589C>T (p.Ile863=)
NM_002968.3(SALL1):c.2643A>G (p.Leu881=)
NM_002968.3(SALL1):c.2742T>C (p.Ala914=)
NM_002968.3(SALL1):c.2793G>A (p.Pro931=)
NM_002968.3(SALL1):c.2798_2803dup (p.Asn933_Ser934dup) rs760807997
NM_002968.3(SALL1):c.2805G>A (p.Thr935=)
NM_002968.3(SALL1):c.2870C>G (p.Ala957Gly)
NM_002968.3(SALL1):c.3180C>A (p.Leu1060=) rs142054182
NM_002968.3(SALL1):c.3180C>T (p.Leu1060=)
NM_002968.3(SALL1):c.3322G>A (p.Val1108Ile) rs148931484
NM_002968.3(SALL1):c.3322G>C (p.Val1108Leu) rs148931484
NM_002968.3(SALL1):c.3537A>G (p.Val1179=)
NM_002968.3(SALL1):c.359A>T (p.Asp120Val)
NM_002968.3(SALL1):c.3630C>T (p.Pro1210=)
NM_002968.3(SALL1):c.3666G>A (p.Ala1222=)
NM_002968.3(SALL1):c.3801C>T (p.Leu1267=)
NM_002968.3(SALL1):c.389C>T (p.Pro130Leu) rs576713482
NM_002968.3(SALL1):c.3963C>T (p.Ile1321=)
NM_002968.3(SALL1):c.3966C>T (p.Val1322=)
NM_002968.3(SALL1):c.448AGC[13] (p.Ser157_Ser159dup) rs113614842
NM_002968.3(SALL1):c.448AGC[7] (p.Ser157_Ser159del) rs113614842
NM_002968.3(SALL1):c.448AGC[8] (p.Ser158_Ser159del)
NM_002968.3(SALL1):c.45C>T (p.Asp15=)
NM_002968.3(SALL1):c.471C>T (p.Ser157=) rs1314370026
NM_002968.3(SALL1):c.478GGC[5] (p.Gly163dup) rs1555475414
NM_002968.3(SALL1):c.548C>A (p.Thr183Lys) rs1417997778
NM_002968.3(SALL1):c.549A>G (p.Thr183=)
NM_002968.3(SALL1):c.567C>G (p.Ser189=)
NM_002968.3(SALL1):c.648C>T (p.Cys216=)
NM_002968.3(SALL1):c.651C>T (p.Gly217=)
NM_002968.3(SALL1):c.662G>A (p.Gly221Glu)
NM_002968.3(SALL1):c.663G>C (p.Gly221=)
NM_002968.3(SALL1):c.76+15C>A
NM_002968.3(SALL1):c.77-5T>A
NM_002968.3(SALL1):c.801T>C (p.Ser267=)
NM_002968.3(SALL1):c.819T>A (p.Gly273=)
NM_002968.3(SALL1):c.855A>G (p.Leu285=) rs762324270
NM_002968.3(SALL1):c.9G>A (p.Arg3=)

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