List of variants in gene SALL1 reported as likely benign by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 97

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HGVS	dbSNP	gnomAD frequency
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.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.1953C>T (p.Pro651=)	rs147169088	0.00007
NM_002968.3(SALL1):c.3084A>G (p.Pro1028=)	rs377643763	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.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.703G>A (p.Ala235Thr)	rs761053549	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.1485C>T (p.His495=)	rs1279763997	0.00001
NM_002968.3(SALL1):c.220G>A (p.Val74Ile)	rs529479120	0.00001
NM_002968.2(SALL1):c.76+10C>G	rs758439424
NM_002968.3(SALL1):c.1022T>C (p.Met341Thr)	rs1372339294
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>T (p.Leu1060=)
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[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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