ClinVar Miner

List of variants in gene SMARCAL1 reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

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Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_014140.4(SMARCAL1):c.1727T>C (p.Ile576Thr) rs138819354 0.00042
NM_014140.4(SMARCAL1):c.2225C>T (p.Thr742Met) rs2271336 0.00029
NM_014140.4(SMARCAL1):c.1427G>A (p.Arg476Gln) rs142164846 0.00026
NM_014140.4(SMARCAL1):c.1001G>A (p.Arg334Gln) rs138575228 0.00019
NM_014140.4(SMARCAL1):c.379G>C (p.Ala127Pro) rs62178625 0.00014
NM_014140.4(SMARCAL1):c.2401T>G (p.Phe801Val) rs200679534 0.00011
NM_014140.4(SMARCAL1):c.1786G>A (p.Ala596Thr) rs143100109 0.00010
NM_014140.4(SMARCAL1):c.1414G>A (p.Ala472Thr) rs571392819 0.00009
NM_014140.4(SMARCAL1):c.2142-15C>A rs371522763 0.00009
NM_014140.4(SMARCAL1):c.1468C>T (p.Arg490Cys) rs371394232 0.00008
NM_014140.4(SMARCAL1):c.1030G>A (p.Glu344Lys) rs370663120 0.00007
NM_014140.4(SMARCAL1):c.1469G>A (p.Arg490His) rs529024384 0.00006
NM_014140.4(SMARCAL1):c.2263A>G (p.Ile755Val) rs578123335 0.00005
NM_014140.4(SMARCAL1):c.1775C>T (p.Thr592Met) rs199876834 0.00004
NM_014140.4(SMARCAL1):c.448G>T (p.Ala150Ser) rs376295895 0.00004
NM_014140.4(SMARCAL1):c.599C>T (p.Ser200Leu) rs777896137 0.00004
NM_014140.4(SMARCAL1):c.1061T>C (p.Ile354Thr) rs768801748 0.00003
NM_014140.4(SMARCAL1):c.1069T>A (p.Phe357Ile) rs369180164 0.00003
NM_014140.4(SMARCAL1):c.1297G>A (p.Val433Met) rs374696042 0.00003
NM_014140.4(SMARCAL1):c.1496G>A (p.Arg499Gln) rs145264115 0.00003
NM_014140.4(SMARCAL1):c.1996C>T (p.Pro666Ser) rs376035215 0.00003
NM_014140.4(SMARCAL1):c.2534T>A (p.Leu845Gln) rs372298863 0.00003
NM_014140.4(SMARCAL1):c.353C>G (p.Ala118Gly) rs776290743 0.00003
NM_014140.4(SMARCAL1):c.733G>A (p.Gly245Ser) rs137914185 0.00003
NM_014140.4(SMARCAL1):c.866A>C (p.Lys289Thr) rs767482393 0.00003
NM_014140.4(SMARCAL1):c.926G>A (p.Ser309Asn) rs545116067 0.00003
NM_014140.4(SMARCAL1):c.1757G>A (p.Arg586Gln) rs766857853 0.00002
NM_014140.4(SMARCAL1):c.193G>A (p.Val65Met) rs759402336 0.00002
NM_014140.4(SMARCAL1):c.1993G>T (p.Ala665Ser) rs768868466 0.00002
NM_014140.4(SMARCAL1):c.2002C>T (p.Arg668Trp) rs189863563 0.00002
NM_014140.4(SMARCAL1):c.2141T>C (p.Ile714Thr) rs372158077 0.00002
NM_014140.4(SMARCAL1):c.2389G>A (p.Asp797Asn) rs528033845 0.00002
NM_014140.4(SMARCAL1):c.2569G>A (p.Gly857Arg) rs760511139 0.00002
NM_014140.4(SMARCAL1):c.2644_2646del (p.Ile882del) rs1315596315 0.00002
NM_014140.4(SMARCAL1):c.2735C>T (p.Ser912Leu) rs763670564 0.00002
NM_014140.4(SMARCAL1):c.488C>A (p.Thr163Asn) rs748188404 0.00002
NM_014140.4(SMARCAL1):c.982C>T (p.Leu328Phe) rs909294272 0.00002
NM_014140.4(SMARCAL1):c.1158G>A (p.Val386=) rs769875821 0.00001
NM_014140.4(SMARCAL1):c.1211C>T (p.Ala404Val) rs761003078 0.00001
NM_014140.4(SMARCAL1):c.1411A>G (p.Ile471Val) rs770049590 0.00001
NM_014140.4(SMARCAL1):c.154G>C (p.Gly52Arg) rs768891693 0.00001
NM_014140.4(SMARCAL1):c.1553G>A (p.Arg518His) rs774075396 0.00001
NM_014140.4(SMARCAL1):c.1645-19T>A rs757704897 0.00001
NM_014140.4(SMARCAL1):c.1696A>G (p.Met566Val) rs776299636 0.00001
NM_014140.4(SMARCAL1):c.1750A>G (p.Met584Val) rs1694331950 0.00001
NM_014140.4(SMARCAL1):c.1762G>T (p.Ala588Ser) rs769553029 0.00001
NM_014140.4(SMARCAL1):c.221A>G (p.Gln74Arg) rs1441502670 0.00001
NM_014140.4(SMARCAL1):c.2260C>T (p.Arg754Cys) rs1226816517 0.00001
NM_014140.4(SMARCAL1):c.2261G>A (p.Arg754His) rs753533155 0.00001
NM_014140.4(SMARCAL1):c.2321C>T (p.Ser774Leu) rs149425324 0.00001
NM_014140.4(SMARCAL1):c.2356G>A (p.Ala786Thr) rs763369356 0.00001
NM_014140.4(SMARCAL1):c.2450G>A (p.Arg817His) rs1172616375 0.00001
NM_014140.4(SMARCAL1):c.2529-4A>G rs886042978 0.00001
NM_014140.4(SMARCAL1):c.2535G>C (p.Leu845=) rs777273652 0.00001
NM_014140.4(SMARCAL1):c.2644A>G (p.Ile882Val) rs752187073 0.00001
NM_014140.4(SMARCAL1):c.2650G>A (p.Asp884Asn) rs763712548 0.00001
NM_014140.4(SMARCAL1):c.2834A>G (p.Asp945Gly) rs1163886519 0.00001
NM_014140.4(SMARCAL1):c.382C>G (p.Gln128Glu) rs762590281 0.00001
NM_014140.4(SMARCAL1):c.41A>T (p.Glu14Val) rs1693548931 0.00001
NM_014140.4(SMARCAL1):c.506A>G (p.Lys169Arg) rs777999697 0.00001
NM_014140.4(SMARCAL1):c.549G>T (p.Gln183His) rs774029345 0.00001
NM_014140.4(SMARCAL1):c.553C>T (p.Pro185Ser) rs1265303129 0.00001
NM_014140.4(SMARCAL1):c.724G>A (p.Val242Ile) rs375140716 0.00001
NM_014140.4(SMARCAL1):c.764A>G (p.Asn255Ser) rs1285863511 0.00001
NM_014140.4(SMARCAL1):c.768G>A (p.Ala256=) rs1436190761 0.00001
NM_014140.4(SMARCAL1):c.76G>A (p.Glu26Lys) rs886055616 0.00001
NM_014140.4(SMARCAL1):c.776T>C (p.Ile259Thr) rs750671325 0.00001
NM_014140.4(SMARCAL1):c.782T>A (p.Val261Glu) rs754882213 0.00001
NM_014140.4(SMARCAL1):c.827C>T (p.Thr276Met) rs558788774 0.00001
NM_014140.4(SMARCAL1):c.113C>T (p.Ser38Leu)
NM_014140.4(SMARCAL1):c.1173A>G (p.Gln391=)
NM_014140.4(SMARCAL1):c.124A>T (p.Ile42Phe)
NM_014140.4(SMARCAL1):c.128C>T (p.Ala43Val)
NM_014140.4(SMARCAL1):c.1311G>T (p.Met437Ile)
NM_014140.4(SMARCAL1):c.1313C>T (p.Pro438Leu)
NM_014140.4(SMARCAL1):c.1331T>A (p.Val444Asp)
NM_014140.4(SMARCAL1):c.1357C>T (p.Arg453Cys)
NM_014140.4(SMARCAL1):c.1375G>A (p.Asp459Asn) rs1574456732
NM_014140.4(SMARCAL1):c.1485+15A>G
NM_014140.4(SMARCAL1):c.1580T>G (p.Val527Gly)
NM_014140.4(SMARCAL1):c.1638CAT[1] (p.Ile548del)
NM_014140.4(SMARCAL1):c.163C>A (p.Gln55Lys)
NM_014140.4(SMARCAL1):c.1657T>A (p.Phe553Ile) rs866600715
NM_014140.4(SMARCAL1):c.1696A>C (p.Met566Leu)
NM_014140.4(SMARCAL1):c.1700C>T (p.Pro567Leu) rs775206136
NM_014140.4(SMARCAL1):c.1733T>C (p.Leu578Ser)
NM_014140.4(SMARCAL1):c.1751T>C (p.Met584Thr)
NM_014140.4(SMARCAL1):c.1762G>A (p.Ala588Thr) rs769553029
NM_014140.4(SMARCAL1):c.1762G>C (p.Ala588Pro) rs769553029
NM_014140.4(SMARCAL1):c.1775C>G (p.Thr592Arg) rs199876834
NM_014140.4(SMARCAL1):c.1849C>T (p.Arg617Trp)
NM_014140.4(SMARCAL1):c.1860G>C (p.Trp620Cys) rs909012139
NM_014140.4(SMARCAL1):c.1871A>G (p.Tyr624Cys)
NM_014140.4(SMARCAL1):c.1947C>A (p.Asp649Glu) rs2066526
NM_014140.4(SMARCAL1):c.1952_1953inv (p.Leu651Gln)
NM_014140.4(SMARCAL1):c.1970A>G (p.Lys657Arg)
NM_014140.4(SMARCAL1):c.200A>G (p.His67Arg)
NM_014140.4(SMARCAL1):c.2016G>C (p.Arg672Ser) rs1303862591
NM_014140.4(SMARCAL1):c.2065_2070delinsGAAACC (p.Lys689Glu)
NM_014140.4(SMARCAL1):c.2110A>G (p.Arg704Gly)
NM_014140.4(SMARCAL1):c.2114C>G (p.Thr705Arg)
NM_014140.4(SMARCAL1):c.2132C>T (p.Pro711Leu)
NM_014140.4(SMARCAL1):c.2141+3A>C
NM_014140.4(SMARCAL1):c.2142T>G (p.Ile714Met)
NM_014140.4(SMARCAL1):c.2248_2256dup
NM_014140.4(SMARCAL1):c.2318T>C (p.Leu773Pro)
NM_014140.4(SMARCAL1):c.2326A>G (p.Arg776Gly)
NM_014140.4(SMARCAL1):c.2341G>A (p.Val781Met) rs745349150
NM_014140.4(SMARCAL1):c.241A>G (p.Asn81Asp)
NM_014140.4(SMARCAL1):c.2473A>G (p.Ser825Gly)
NM_014140.4(SMARCAL1):c.2541A>G (p.Gln847=)
NM_014140.4(SMARCAL1):c.2549T>C (p.Ile850Thr)
NM_014140.4(SMARCAL1):c.2582C>T (p.Thr861Ile)
NM_014140.4(SMARCAL1):c.2662_2664del (p.Lys888del) rs1460396872
NM_014140.4(SMARCAL1):c.2687A>C (p.Asp896Ala) rs1695229421
NM_014140.4(SMARCAL1):c.269A>C (p.His90Pro)
NM_014140.4(SMARCAL1):c.272G>T (p.Ser91Ile)
NM_014140.4(SMARCAL1):c.2823del (p.Phe941fs) rs774004064
NM_014140.4(SMARCAL1):c.2832dup (p.Asp945Ter) rs759257705
NM_014140.4(SMARCAL1):c.305_319del (p.Glu102_Thr106del)
NM_014140.4(SMARCAL1):c.340C>T (p.Arg114Cys) rs202031614
NM_014140.4(SMARCAL1):c.383A>G (p.Gln128Arg)
NM_014140.4(SMARCAL1):c.389C>T (p.Pro130Leu)
NM_014140.4(SMARCAL1):c.407A>G (p.Gln136Arg)
NM_014140.4(SMARCAL1):c.426G>C (p.Glu142Asp) rs767158204
NM_014140.4(SMARCAL1):c.454C>T (p.Pro152Ser) rs1384608239
NM_014140.4(SMARCAL1):c.488C>T (p.Thr163Ile)
NM_014140.4(SMARCAL1):c.545_546delinsAT (p.Gly182Asp)
NM_014140.4(SMARCAL1):c.581C>G (p.Thr194Arg)
NM_014140.4(SMARCAL1):c.581C>T (p.Thr194Ile)
NM_014140.4(SMARCAL1):c.604C>A (p.Gln202Lys)
NM_014140.4(SMARCAL1):c.651G>T (p.Arg217Ser)
NM_014140.4(SMARCAL1):c.740G>C (p.Arg247Pro)
NM_014140.4(SMARCAL1):c.7T>G (p.Leu3Val)
NM_014140.4(SMARCAL1):c.811+6G>T
NM_014140.4(SMARCAL1):c.862+6T>A
NM_014140.4(SMARCAL1):c.863-17TTC[2] rs762653086
NM_014140.4(SMARCAL1):c.91G>A (p.Glu31Lys)
NM_014140.4(SMARCAL1):c.934C>A (p.Pro312Thr)
NM_014140.4(SMARCAL1):c.959C>T (p.Ala320Val)
NM_014140.4(SMARCAL1):c.970T>A (p.Ser324Thr)

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