ClinVar Miner

List of variants reported as uncertain significance for Townes syndrome by Invitae

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Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_002968.3(SALL1):c.1738A>G (p.Ile580Val) rs761575154 0.00008
NM_002968.3(SALL1):c.1715C>T (p.Thr572Met) rs373471563 0.00006
NM_002968.3(SALL1):c.3938G>A (p.Arg1313His) rs529030284 0.00006
NM_002968.3(SALL1):c.2947G>C (p.Glu983Gln) rs762072595 0.00004
NM_002968.3(SALL1):c.3836C>T (p.Thr1279Met) rs776104367 0.00004
NM_002968.3(SALL1):c.3728A>G (p.Asn1243Ser) rs535981732 0.00003
NM_002968.3(SALL1):c.3782C>G (p.Pro1261Arg) rs376879952 0.00003
NM_002968.3(SALL1):c.3890T>G (p.Leu1297Arg) rs767612617 0.00003
NM_002968.3(SALL1):c.412G>A (p.Gly138Ser) rs756723612 0.00003
NM_002968.3(SALL1):c.2452T>G (p.Phe818Val) rs1297554616 0.00002
NM_002968.3(SALL1):c.2461C>G (p.Leu821Val) rs766208261 0.00002
NM_002968.3(SALL1):c.1892C>T (p.Thr631Ile) rs768794489 0.00001
NM_002968.3(SALL1):c.2590G>A (p.Ala864Thr) rs199626036 0.00001
NM_002968.3(SALL1):c.2957T>C (p.Leu986Ser) rs764408117 0.00001
NM_002968.3(SALL1):c.3088A>G (p.Ile1030Val) rs1238657472 0.00001
NM_002968.3(SALL1):c.3409A>G (p.Asn1137Asp) rs1352323090 0.00001
NM_002968.2(SALL1):c.466_477dup (p.Ser159_Gly160insSerSerSerSer) rs113614842
NM_002968.3(SALL1):c.109A>T (p.Thr37Ser)
NM_002968.3(SALL1):c.1113ATC[1] (p.Ser375del) rs758101035
NM_002968.3(SALL1):c.1210A>C (p.Ser404Arg)
NM_002968.3(SALL1):c.1234A>G (p.Thr412Ala)
NM_002968.3(SALL1):c.1306T>G (p.Phe436Val)
NM_002968.3(SALL1):c.1329T>G (p.Asp443Glu)
NM_002968.3(SALL1):c.1364C>G (p.Ala455Gly)
NM_002968.3(SALL1):c.1458C>G (p.Phe486Leu)
NM_002968.3(SALL1):c.1556A>G (p.Asn519Ser)
NM_002968.3(SALL1):c.1583A>G (p.Tyr528Cys)
NM_002968.3(SALL1):c.1589T>G (p.Met530Arg)
NM_002968.3(SALL1):c.1636C>G (p.Pro546Ala)
NM_002968.3(SALL1):c.1754C>T (p.Thr585Ile)
NM_002968.3(SALL1):c.1763C>A (p.Pro588Gln)
NM_002968.3(SALL1):c.1921G>A (p.Val641Ile)
NM_002968.3(SALL1):c.1948G>A (p.Gly650Ser)
NM_002968.3(SALL1):c.1954G>A (p.Ala652Thr)
NM_002968.3(SALL1):c.1955C>T (p.Ala652Val)
NM_002968.3(SALL1):c.1991C>T (p.Pro664Leu)
NM_002968.3(SALL1):c.2018A>G (p.Lys673Arg)
NM_002968.3(SALL1):c.2027T>C (p.Phe676Ser)
NM_002968.3(SALL1):c.2030G>C (p.Gly677Ala)
NM_002968.3(SALL1):c.2104G>A (p.Ala702Thr)
NM_002968.3(SALL1):c.2117A>G (p.Asn706Ser)
NM_002968.3(SALL1):c.2130C>G (p.Ile710Met)
NM_002968.3(SALL1):c.2195G>A (p.Arg732Lys)
NM_002968.3(SALL1):c.2204A>G (p.Lys735Arg)
NM_002968.3(SALL1):c.2269C>T (p.Arg757Cys)
NM_002968.3(SALL1):c.2393T>G (p.Val798Gly)
NM_002968.3(SALL1):c.239C>A (p.Ser80Tyr)
NM_002968.3(SALL1):c.2416A>G (p.Met806Val)
NM_002968.3(SALL1):c.2555C>G (p.Ser852Cys)
NM_002968.3(SALL1):c.2563C>T (p.Pro855Ser)
NM_002968.3(SALL1):c.2582C>T (p.Ser861Leu)
NM_002968.3(SALL1):c.268C>T (p.Pro90Ser) rs749198993
NM_002968.3(SALL1):c.2780A>G (p.Gln927Arg)
NM_002968.3(SALL1):c.2800A>G (p.Ser934Gly)
NM_002968.3(SALL1):c.2852C>T (p.Ala951Val) rs766899404
NM_002968.3(SALL1):c.2862C>T (p.Ser954=)
NM_002968.3(SALL1):c.2863G>A (p.Glu955Lys)
NM_002968.3(SALL1):c.2882C>T (p.Ser961Phe)
NM_002968.3(SALL1):c.2929G>A (p.Ala977Thr)
NM_002968.3(SALL1):c.3000C>G (p.Asn1000Lys)
NM_002968.3(SALL1):c.3095C>T (p.Thr1032Ile)
NM_002968.3(SALL1):c.3209A>G (p.Asn1070Ser)
NM_002968.3(SALL1):c.3347C>T (p.Ser1116Phe)
NM_002968.3(SALL1):c.3373G>T (p.Ala1125Ser)
NM_002968.3(SALL1):c.3437C>T (p.Ser1146Leu)
NM_002968.3(SALL1):c.3584G>A (p.Arg1195Gln) rs1030315086
NM_002968.3(SALL1):c.3617T>C (p.Leu1206Pro)
NM_002968.3(SALL1):c.3648G>A (p.Met1216Ile)
NM_002968.3(SALL1):c.3685G>A (p.Asp1229Asn)
NM_002968.3(SALL1):c.3696C>G (p.Ser1232Arg)
NM_002968.3(SALL1):c.3802G>A (p.Gly1268Ser)
NM_002968.3(SALL1):c.3843C>G (p.Asn1281Lys) rs1962320266
NM_002968.3(SALL1):c.3928C>T (p.Arg1310Cys)
NM_002968.3(SALL1):c.3937C>T (p.Arg1313Cys)
NM_002968.3(SALL1):c.419C>A (p.Ser140Tyr)
NM_002968.3(SALL1):c.424G>A (p.Gly142Ser) rs553871743
NM_002968.3(SALL1):c.429C>G (p.Ser143Arg)
NM_002968.3(SALL1):c.442G>A (p.Ala148Thr)
NM_002968.3(SALL1):c.460_480del (p.Ser154_Gly160del)
NM_002968.3(SALL1):c.477_478insAGCACC (p.Ser159_Gly160insSerThr)
NM_002968.3(SALL1):c.477_478insAGCGGC (p.Ser159_Gly160insSerGly) rs1555475415
NM_002968.3(SALL1):c.481G>A (p.Gly161Ser)
NM_002968.3(SALL1):c.61C>A (p.Leu21Ile)
NM_002968.3(SALL1):c.630C>A (p.Phe210Leu)
NM_002968.3(SALL1):c.71G>T (p.Arg24Leu)
NM_002968.3(SALL1):c.827G>C (p.Arg276Pro)
NM_002968.3(SALL1):c.868T>C (p.Ser290Pro)
NM_002968.3(SALL1):c.972C>A (p.Ser324Arg)
NM_002968.3(SALL1):c.983A>G (p.Asn328Ser)

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