ClinVar Miner

List of variants reported as pathogenic for Townes-Brocks syndrome by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_002968.3(SALL1):c.3414_3415del (p.Cys1139fs) rs1064793257 0.00001
NC_000016.9:g.(?_51185057)_(51185152_?)del
NM_002968.3(SALL1):c.1027dup (p.Ile343fs) rs2143448046
NM_002968.3(SALL1):c.1028dup (p.Leu344fs) rs2143448019
NM_002968.3(SALL1):c.1183C>T (p.Gln395Ter)
NM_002968.3(SALL1):c.1214dup (p.Leu406fs) rs1555475275
NM_002968.3(SALL1):c.1309G>T (p.Glu437Ter)
NM_002968.3(SALL1):c.1324del (p.Ser442fs) rs1597230288
NM_002968.3(SALL1):c.1417G>T (p.Gly473Ter)
NM_002968.3(SALL1):c.1423_1424del (p.Arg475fs) rs2143446012
NM_002968.3(SALL1):c.2256del (p.Tyr753fs) rs1555475120
NM_002968.3(SALL1):c.2325_2331dup (p.Ala778fs)
NM_002968.3(SALL1):c.2356del (p.Arg786fs) rs1555475106
NM_002968.3(SALL1):c.3005_3008del (p.Ala1002fs) rs1597228188
NM_002968.3(SALL1):c.3128_3129del (p.Asn1043fs)
NM_002968.3(SALL1):c.420del (p.Ser141fs) rs1962442258
NM_002968.3(SALL1):c.469_512dup (p.Ile172fs)
NM_002968.3(SALL1):c.691del (p.Glu231fs) rs2143449682
NM_002968.3(SALL1):c.712C>T (p.Gln238Ter) rs1567316325
NM_002968.3(SALL1):c.750dup (p.Arg251fs) rs1962428520
NM_002968.3(SALL1):c.76+5G>A
NM_002968.3(SALL1):c.814C>T (p.Gln272Ter) rs1555475342
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter) rs104894537
NM_002968.3(SALL1):c.866T>A (p.Leu289Ter) rs1555475334
NM_002968.3(SALL1):c.870_871dup (p.Gln291fs) rs886041236
NM_002968.3(SALL1):c.870dup (p.Gln291fs) rs2143448859
NM_002968.3(SALL1):c.871C>T (p.Gln291Ter) rs1962424706
NM_002968.3(SALL1):c.874C>T (p.Gln292Ter)
NM_002968.3(SALL1):c.878_887del (p.Leu293fs)
NM_002968.3(SALL1):c.881_893dup (p.Leu299fs) rs2143448771
NM_002968.3(SALL1):c.958C>T (p.Gln320Ter) rs1555475319
NM_002968.3(SALL1):c.967C>T (p.Gln323Ter) rs104894538

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