ClinVar Miner

List of variants in gene SALL1 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 41
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HGVS dbSNP
NM_001127892.1(SALL1):c.-117C>T rs529187255
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.1025A>C (p.Asn342Thr) rs886042214
NM_002968.2(SALL1):c.1144A>G (p.Ser382Gly) rs794727269
NM_002968.2(SALL1):c.1322C>A (p.Thr441Asn) rs76275412
NM_002968.2(SALL1):c.1329T>A (p.Asp443Glu) rs201203066
NM_002968.2(SALL1):c.1398C>A (p.Ile466=) rs758330038
NM_002968.2(SALL1):c.1715C>T (p.Thr572Met) rs373471563
NM_002968.2(SALL1):c.1903C>T (p.Pro635Ser) rs61731136
NM_002968.2(SALL1):c.1911G>A (p.Ala637=) rs148595195
NM_002968.2(SALL1):c.2223G>A (p.Arg741=) rs1430868205
NM_002968.2(SALL1):c.2278C>T (p.Pro760Ser) rs140384285
NM_002968.2(SALL1):c.2283G>C (p.Pro761=) rs774128799
NM_002968.2(SALL1):c.235G>C (p.Ala79Pro) rs536108231
NM_002968.2(SALL1):c.2373C>A (p.Gly791=) rs377295510
NM_002968.2(SALL1):c.2549G>C (p.Ser850Thr) rs770243923
NM_002968.2(SALL1):c.2574C>T (p.Leu858=) rs1965024
NM_002968.2(SALL1):c.2590G>A (p.Ala864Thr) rs199626036
NM_002968.2(SALL1):c.2825C>A (p.Pro942His) rs751069468
NM_002968.2(SALL1):c.3021C>G (p.Gly1007=) rs138625168
NM_002968.2(SALL1):c.3120A>G (p.Thr1040=) rs146655918
NM_002968.2(SALL1):c.3180C>A (p.Leu1060=) rs142054182
NM_002968.2(SALL1):c.3222G>C (p.Ala1074=) rs61731131
NM_002968.2(SALL1):c.3270C>T (p.Asn1090=) rs143637930
NM_002968.2(SALL1):c.3305A>G (p.Asp1102Gly) rs886043770
NM_002968.2(SALL1):c.361A>G (p.Arg121Gly) rs377440481
NM_002968.2(SALL1):c.3750C>T (p.Asn1250=) rs142653419
NM_002968.2(SALL1):c.3794G>A (p.Gly1265Glu) rs149302006
NM_002968.2(SALL1):c.3915C>T (p.Asn1305=) rs140524372
NM_002968.2(SALL1):c.411C>T (p.Ser137=) rs151051011
NM_002968.2(SALL1):c.466_477dup (p.Ser159_Gly160insSerSerSerSer) rs113614842
NM_002968.2(SALL1):c.472A>G (p.Ser158Gly) rs139646526
NM_002968.2(SALL1):c.475_477delAGC rs113614842
NM_002968.2(SALL1):c.477_478insAGCGGC (p.Gly160_Gly161insSerGly) rs1555475415
NM_002968.2(SALL1):c.484G>A (p.Gly162Ser) rs754902005
NM_002968.2(SALL1):c.727C>T (p.Gln243Ter) rs886044708
NM_002968.2(SALL1):c.809C>T (p.Pro270Leu) rs140827311
NM_002968.2(SALL1):c.986C>T (p.Thr329Ile) rs886043094
NM_002968.3(SALL1):c.448_450AGC[11] (p.Ser159dup) rs113614842
NM_002968.3(SALL1):c.448_450AGC[12] (p.Ser158_Ser159dup) rs113614842

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