ClinVar Miner

List of variants in gene SALL1 reported by Invitae

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Gene type:
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Total variants: 52
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HGVS dbSNP
NC_000016.9:g.(?_51171003)_(51185172_?)del
NM_001127892.1(SALL1):c.157_159AGC[11] (p.Ser62dup) rs113614842
NM_001127892.1(SALL1):c.157_159AGC[12] (p.Ser61_Ser62dup) rs113614842
NM_001127892.1(SALL1):c.157_159AGC[7] (p.Ser60_Ser62del) rs113614842
NM_001127892.1(SALL1):c.187_189GGC[5] (p.Gly66dup) rs1555475414
NM_002968.2(SALL1):c.1014T>G (p.Ser338=) rs960886445
NM_002968.2(SALL1):c.1214dup (p.Leu406fs) rs1555475275
NM_002968.2(SALL1):c.1322C>A (p.Thr441Asn) rs76275412
NM_002968.2(SALL1):c.1878G>C (p.Glu626Asp) rs80248061
NM_002968.2(SALL1):c.1904C>T (p.Pro635Leu) rs146454164
NM_002968.2(SALL1):c.2256del (p.Tyr753fs) rs1555475120
NM_002968.2(SALL1):c.2310C>T (p.Ile770=) rs61740811
NM_002968.2(SALL1):c.2343G>C (p.Leu781=) rs60270998
NM_002968.2(SALL1):c.2356del (p.Arg786fs) rs1555475106
NM_002968.2(SALL1):c.2544A>G (p.Gln848=) rs45459896
NM_002968.2(SALL1):c.264C>T (p.Ser88=) rs143501736
NM_002968.2(SALL1):c.292A>G (p.Met98Val) rs28643388
NM_002968.2(SALL1):c.3005_3008del (p.Ala1002fs)
NM_002968.2(SALL1):c.3120A>G (p.Thr1040=) rs146655918
NM_002968.2(SALL1):c.3160C>T (p.Arg1054Ter) rs864321635
NM_002968.2(SALL1):c.3180C>A (p.Leu1060=) rs142054182
NM_002968.2(SALL1):c.3199C>T (p.Leu1067Phe) rs1375814966
NM_002968.2(SALL1):c.3222G>A (p.Ala1074=) rs61731131
NM_002968.2(SALL1):c.3414_3415del (p.Cys1139fs) rs1064793257
NM_002968.2(SALL1):c.351C>T (p.Asn117=) rs145806303
NM_002968.2(SALL1):c.3584G>A (p.Arg1195Gln) rs1030315086
NM_002968.2(SALL1):c.3794G>A (p.Gly1265Glu) rs149302006
NM_002968.2(SALL1):c.379G>C (p.Val127Leu) rs138635817
NM_002968.2(SALL1):c.3872A>G (p.Asn1291Ser) rs74499562
NM_002968.2(SALL1):c.390G>A (p.Pro130=) rs75156807
NM_002968.2(SALL1):c.3915C>T (p.Asn1305=) rs140524372
NM_002968.2(SALL1):c.3942C>T (p.Phe1314=) rs189411650
NM_002968.2(SALL1):c.472A>G (p.Ser158Gly) rs139646526
NM_002968.2(SALL1):c.537C>T (p.Leu179=) rs200539812
NM_002968.2(SALL1):c.548C>A (p.Thr183Lys)
NM_002968.2(SALL1):c.809C>T (p.Pro270Leu) rs140827311
NM_002968.2(SALL1):c.826C>T (p.Arg276Ter) rs104894537
NM_002968.2(SALL1):c.855A>G (p.Leu285=) rs762324270
NM_002968.2(SALL1):c.866T>A (p.Leu289Ter) rs1555475334
NM_002968.2(SALL1):c.958C>T (p.Gln320Ter) rs1555475319
NM_002968.2(SALL1):c.967C>T (p.Gln323Ter) rs104894538
NM_002968.3(SALL1):c.1022T>C (p.Met341Thr)
NM_002968.3(SALL1):c.1200G>A (p.Ser400=)
NM_002968.3(SALL1):c.1324del (p.Ser442fs)
NM_002968.3(SALL1):c.1485C>T (p.His495=)
NM_002968.3(SALL1):c.2752G>A (p.Ala918Thr)
NM_002968.3(SALL1):c.2798_2803dup (p.Asn933_Ser934dup)
NM_002968.3(SALL1):c.3084A>G (p.Pro1028=)
NM_002968.3(SALL1):c.3759C>T (p.Ser1253=)
NM_002968.3(SALL1):c.3957G>A (p.Lys1319=)
NM_002968.3(SALL1):c.448_450AGC[13] (p.Ser157_Ser159dup)
NM_002968.3(SALL1):c.703G>A (p.Ala235Thr)

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