ClinVar Miner

List of variants reported as benign for chromosome 2 disorder by Invitae

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 136
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HGVS dbSNP gnomAD frequency
NM_001172509.2(SATB2):c.1543-4A>C rs10153730 0.93908
NM_001378120.1(MBD5):c.2519-18T>G rs555177897 0.00625
NM_001378120.1(MBD5):c.1596A>G (p.Val532=) rs114611333 0.00588
NM_001378120.1(MBD5):c.297A>G (p.Leu99=) rs77213206 0.00431
NM_001378120.1(MBD5):c.1638C>T (p.Ala546=) rs116413446 0.00337
NM_001378120.1(MBD5):c.3942T>A (p.Gly1314=) rs115816749 0.00290
NM_001172509.2(SATB2):c.1818G>T (p.Pro606=) rs141436870 0.00166
NM_001378120.1(MBD5):c.3978C>T (p.Val1326=) rs35692977 0.00123
NM_001378120.1(MBD5):c.1368G>T (p.Ser456=) rs146020786 0.00115
NM_001172509.2(SATB2):c.1434C>T (p.Gly478=) rs149056216 0.00109
NM_001378120.1(MBD5):c.3754-9T>C rs370173652 0.00100
NM_001172509.2(SATB2):c.210C>T (p.Asp70=) rs34311963 0.00070
NM_001172509.2(SATB2):c.2121C>T (p.Ser707=) rs141424911 0.00067
NM_001172509.2(SATB2):c.195C>T (p.Val65=) rs147613731 0.00065
NM_001378120.1(MBD5):c.4629A>G (p.Gln1543=) rs115145637 0.00049
NM_001378120.1(MBD5):c.2254A>G (p.Ile752Val) rs147455836 0.00040
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile) rs145475623 0.00034
NM_001172509.2(SATB2):c.1386+18C>T rs199984701 0.00029
NM_001378120.1(MBD5):c.4009A>G (p.Ile1337Val) rs115940994 0.00028
NM_001172509.2(SATB2):c.151G>A (p.Val51Met) rs540871216 0.00025
NM_001378120.1(MBD5):c.69G>A (p.Val23=) rs151204004 0.00024
NM_001378120.1(MBD5):c.276A>G (p.Ala92=) rs141855494 0.00022
NM_001378120.1(MBD5):c.2162C>T (p.Pro721Leu) rs138639760 0.00021
NM_001378120.1(MBD5):c.1535C>T (p.Ser512Phe) rs201695275 0.00020
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln) rs149278000 0.00020
NM_001172509.2(SATB2):c.1035C>A (p.Ile345=) rs150824088 0.00019
NM_001172509.2(SATB2):c.1386+19G>A rs374300066 0.00018
NM_001378120.1(MBD5):c.3678G>C (p.Gln1226His) rs148321416 0.00015
NM_001172509.2(SATB2):c.405C>T (p.Pro135=) rs150990155 0.00014
NM_001172509.2(SATB2):c.862G>A (p.Ala288Thr) rs142825652 0.00012
NM_001172509.2(SATB2):c.2034G>C (p.Glu678Asp) rs147191297 0.00011
NM_001378120.1(MBD5):c.2279A>G (p.His760Arg) rs763275881 0.00011
NM_001378120.1(MBD5):c.3793A>T (p.Ile1265Leu) rs774513612 0.00011
NM_001378120.1(MBD5):c.2275G>A (p.Val759Met) rs377604964 0.00009
NM_001378120.1(MBD5):c.4189G>A (p.Ala1397Thr) rs534413662 0.00009
NM_001172509.2(SATB2):c.306G>A (p.Leu102=) rs201405384 0.00008
NM_001378120.1(MBD5):c.3677A>C (p.Gln1226Pro) rs761395486 0.00008
NM_001172509.2(SATB2):c.1776G>A (p.Glu592=) rs375553887 0.00007
NM_001378120.1(MBD5):c.4294G>A (p.Gly1432Arg) rs201334086 0.00007
NM_001378120.1(MBD5):c.3919G>A (p.Gly1307Ser) rs150972614 0.00006
NM_001172509.2(SATB2):c.1173+4C>A rs376920785 0.00005
NM_001172509.2(SATB2):c.1828A>G (p.Ser610Gly) rs1048433974 0.00005
NM_001172509.2(SATB2):c.1843C>T (p.Pro615Ser) rs1394335364 0.00005
NM_001378120.1(MBD5):c.2314A>C (p.Asn772His) rs200151142 0.00005
NM_001378120.1(MBD5):c.692T>C (p.Ile231Thr) rs199530726 0.00005
NM_001172509.2(SATB2):c.1140T>A (p.Ala380=) rs771044415 0.00004
NM_001172509.2(SATB2):c.169+11G>T rs779817342 0.00004
NM_001378120.1(MBD5):c.2399G>A (p.Gly800Asp) rs201668347 0.00004
NM_001378120.1(MBD5):c.3952G>A (p.Val1318Ile) rs199626531 0.00004
NM_001378120.1(MBD5):c.796A>G (p.Ile266Val) rs568826753 0.00004
NM_001172509.2(SATB2):c.1439A>G (p.Asn480Ser) rs201864116 0.00003
NM_001172509.2(SATB2):c.700+6C>T rs755400212 0.00003
NM_001378120.1(MBD5):c.2521G>A (p.Gly841Ser) rs752445724 0.00003
NM_001172509.2(SATB2):c.121A>G (p.Met41Val) rs919635073 0.00002
NM_001172509.2(SATB2):c.2048C>T (p.Ala683Val) rs1451743452 0.00002
NM_001172509.2(SATB2):c.2135A>G (p.Lys712Arg) rs999561200 0.00002
NM_001172509.2(SATB2):c.568A>T (p.Thr190Ser) rs1333077167 0.00002
NM_001172509.2(SATB2):c.695T>C (p.Ile232Thr) rs773467832 0.00002
NM_001378120.1(MBD5):c.1377A>G (p.Arg459=) rs762047019 0.00002
NM_001378120.1(MBD5):c.4084T>C (p.Ser1362Pro) rs200395037 0.00002
NM_001172509.2(SATB2):c.1072G>A (p.Val358Met) rs765504446 0.00001
NM_001172509.2(SATB2):c.1397C>T (p.Ser466Leu) rs780366664 0.00001
NM_001172509.2(SATB2):c.1445A>G (p.Asn482Ser) rs1302645769 0.00001
NM_001172509.2(SATB2):c.1543-6C>G rs1328592029 0.00001
NM_001172509.2(SATB2):c.1627C>T (p.Arg543Cys) rs756719862 0.00001
NM_001172509.2(SATB2):c.1704G>A (p.Met568Ile) rs1042085577 0.00001
NM_001172509.2(SATB2):c.1749T>C (p.His583=) rs199854906 0.00001
NM_001172509.2(SATB2):c.2172G>C (p.Lys724Asn) rs915648697 0.00001
NM_001172509.2(SATB2):c.2176G>A (p.Ala726Thr) rs551624897 0.00001
NM_001172509.2(SATB2):c.482A>G (p.Lys161Arg) rs1360355424 0.00001
NM_001172509.2(SATB2):c.597+4A>G rs777983427 0.00001
NM_001172509.2(SATB2):c.732C>A (p.Asp244Glu) rs766855879 0.00001
NM_001172509.2(SATB2):c.771T>G (p.Asn257Lys) rs1000649173 0.00001
NM_001172509.2(SATB2):c.894T>A (p.Leu298=) rs199530574 0.00001
NM_001172509.2(SATB2):c.94G>A (p.Ala32Thr) rs1461281024 0.00001
NM_001378120.1(MBD5):c.109G>A (p.Val37Ile) rs747911147 0.00001
NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu) rs536900412 0.00001
NM_001378120.1(MBD5):c.1963G>A (p.Ala655Thr) rs576930680 0.00001
NM_001378120.1(MBD5):c.2524T>C (p.Ser842Pro) rs144805912 0.00001
NM_001378120.1(MBD5):c.3925G>A (p.Val1309Ile) rs973326943 0.00001
NM_001378120.1(MBD5):c.396A>G (p.Thr132=) rs778891789 0.00001
NM_001378120.1(MBD5):c.398-12C>T rs556768118 0.00001
NM_001378120.1(MBD5):c.4121G>A (p.Ser1374Asn) rs763106823 0.00001
NM_001378120.1(MBD5):c.4199C>T (p.Pro1400Leu) rs1057522316 0.00001
NM_001378120.1(MBD5):c.4438A>G (p.Ile1480Val) rs746105686 0.00001
NM_001378120.1(MBD5):c.4731C>T (p.Ser1577=) rs777735514 0.00001
NM_001378120.1(MBD5):c.785A>G (p.Asn262Ser) rs772659870 0.00001
NM_001172509.2(SATB2):c.1174-16del rs555268633
NM_001172509.2(SATB2):c.1174-16dup
NM_001172509.2(SATB2):c.118C>A (p.Pro40Thr)
NM_001172509.2(SATB2):c.1331A>G (p.Asn444Ser)
NM_001172509.2(SATB2):c.1346C>T (p.Ser449Phe) rs1323623166
NM_001172509.2(SATB2):c.1405A>C (p.Thr469Pro)
NM_001172509.2(SATB2):c.1432G>A (p.Gly478Ser) rs1043250716
NM_001172509.2(SATB2):c.1441A>G (p.Ile481Val) rs1559161533
NM_001172509.2(SATB2):c.1453G>C (p.Ala485Pro)
NM_001172509.2(SATB2):c.1459A>G (p.Ile487Val)
NM_001172509.2(SATB2):c.148G>T (p.Ala50Ser)
NM_001172509.2(SATB2):c.15C>A (p.Ser5Arg)
NM_001172509.2(SATB2):c.1711G>A (p.Val571Met) rs188013011
NM_001172509.2(SATB2):c.1732C>A (p.Pro578Thr)
NM_001172509.2(SATB2):c.1741G>C (p.Val581Leu) rs1692196446
NM_001172509.2(SATB2):c.1771A>C (p.Lys591Gln) rs2105707537
NM_001172509.2(SATB2):c.1817C>T (p.Pro606Leu)
NM_001172509.2(SATB2):c.1844C>T (p.Pro615Leu) rs1692191333
NM_001172509.2(SATB2):c.1970A>G (p.His657Arg) rs2105707013
NM_001172509.2(SATB2):c.2031A>C (p.Lys677Asn)
NM_001172509.2(SATB2):c.2105A>G (p.Asp702Gly)
NM_001172509.2(SATB2):c.2177C>T (p.Ala726Val) rs2105706426
NM_001172509.2(SATB2):c.233G>A (p.Arg78Lys) rs767582582
NM_001172509.2(SATB2):c.275T>C (p.Leu92Pro)
NM_001172509.2(SATB2):c.346+16_346+17delinsAA
NM_001172509.2(SATB2):c.365G>A (p.Arg122Lys)
NM_001172509.2(SATB2):c.376C>T (p.Leu126Phe) rs1574568704
NM_001172509.2(SATB2):c.426G>A (p.Met142Ile) rs764205432
NM_001172509.2(SATB2):c.598-13dup rs199978702
NM_001172509.2(SATB2):c.701-12A>C rs116585116
NM_001172509.2(SATB2):c.724C>T (p.Leu242Phe)
NM_001172509.2(SATB2):c.732C>G (p.Asp244Glu) rs766855879
NM_001172509.2(SATB2):c.74G>C (p.Gly25Ala)
NM_001172509.2(SATB2):c.752G>A (p.Arg251His) rs2105823583
NM_001172509.2(SATB2):c.803A>G (p.Asn268Ser) rs375141410
NM_001172509.2(SATB2):c.844A>G (p.Ile282Val) rs1688735770
NM_001172509.2(SATB2):c.91G>A (p.Val31Met)
NM_001172509.2(SATB2):c.982G>T (p.Ala328Ser)
NM_001378120.1(MBD5):c.1249A>G (p.Met417Val) rs1250224277
NM_001378120.1(MBD5):c.156A>G (p.Thr52=) rs796958008
NM_001378120.1(MBD5):c.1911G>T (p.Gly637=) rs772127604
NM_001378120.1(MBD5):c.2285A>G (p.His762Arg) rs2105641515
NM_001378120.1(MBD5):c.2416T>G (p.Ser806Ala) rs894958571
NM_001378120.1(MBD5):c.2519-10_2519-9del rs5835195
NM_001378120.1(MBD5):c.2519-9del rs5835195
NM_001378120.1(MBD5):c.2859C>A (p.Ile953=)
NM_001378120.1(MBD5):c.4358G>A (p.Gly1453Asp) rs1197271060
NM_001378120.1(MBD5):c.5113-6T>G rs2105294854
NM_001378120.1(MBD5):c.871A>G (p.Met291Val) rs1680681539

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