ClinVar Miner

List of variants studied for intellectual disability-sparse hair-brachydactyly syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_003070.5(SMARCA2):c.3672G>A (p.Glu1224=) rs6601 0.24705
NM_003070.5(SMARCA2):c.4638C>G (p.Asp1546Glu) rs2296212 0.17040
NM_003070.5(SMARCA2):c.-5G>A rs10964468 0.13219
NM_003070.5(SMARCA2):c.1827A>G (p.Pro609=) rs13288443 0.12157
NM_003070.5(SMARCA2):c.177G>A (p.Thr59=) rs10964471 0.08917
NM_003070.5(SMARCA2):c.174G>A (p.Pro58=) rs10964470 0.04780
NM_003070.5(SMARCA2):c.683A>C (p.Gln228Pro) rs62534884 0.03925
NM_003070.5(SMARCA2):c.*698T>C rs45616134 0.03565
NM_003070.5(SMARCA2):c.717G>A (p.Pro239=) rs10964525 0.02801
NM_003070.5(SMARCA2):c.*431G>A rs17387924 0.02045
NM_003070.5(SMARCA2):c.*716A>G rs1061478 0.01921
NM_003070.5(SMARCA2):c.2992-8G>A rs77406154 0.01836
NM_003070.5(SMARCA2):c.2770-7C>G rs114448411 0.01734
NM_003070.5(SMARCA2):c.*620T>C rs7048532 0.01641
NM_003070.5(SMARCA2):c.4590C>T (p.Ser1530=) rs77070978 0.01166
NM_003070.5(SMARCA2):c.462G>A (p.Gly154=) rs61736900 0.00974
NM_003070.5(SMARCA2):c.669G>A (p.Gln223=) rs62639301 0.00696
NM_003070.5(SMARCA2):c.*138C>T rs75720779 0.00625
NM_003070.5(SMARCA2):c.*726T>C rs28374302 0.00597
NM_003070.5(SMARCA2):c.666A>G (p.Gln222=) rs13296987 0.00541
NM_003070.5(SMARCA2):c.2733A>G (p.Gln911=) rs146829604 0.00409
NM_003070.5(SMARCA2):c.*181C>T rs180701505 0.00218
NM_003070.5(SMARCA2):c.4761G>A (p.Thr1587=) rs146702999 0.00143
NM_003070.5(SMARCA2):c.2349-3T>C rs371183012 0.00110
NM_003070.5(SMARCA2):c.1122C>G (p.Thr374=) rs138404604 0.00108
NM_003070.5(SMARCA2):c.3438C>T (p.Ser1146=) rs62534896 0.00088
NM_003070.5(SMARCA2):c.1422G>A (p.Gln474=) rs144434753 0.00087
NM_003070.5(SMARCA2):c.4717G>A (p.Asp1573Asn) rs61736899 0.00083
NM_003070.5(SMARCA2):c.695A>C (p.Gln232Pro) rs143245740 0.00083
NM_003070.5(SMARCA2):c.4440G>A (p.Thr1480=) rs184913034 0.00073
NM_003070.5(SMARCA2):c.4699G>C (p.Val1567Leu) rs144110632 0.00068
NM_003070.5(SMARCA2):c.4737+13G>A rs149380449 0.00060
NM_003070.5(SMARCA2):c.1962G>A (p.Gln654=) rs151212782 0.00058
NM_003070.5(SMARCA2):c.708A>G (p.Gln236=) rs754442970 0.00050
NM_003070.5(SMARCA2):c.1746+10C>T rs140722679 0.00043
NM_003070.5(SMARCA2):c.1806C>T (p.Thr602=) rs202136878 0.00036
NM_003070.5(SMARCA2):c.4479C>T (p.Ile1493=) rs111380592 0.00035
NM_003070.5(SMARCA2):c.689A>C (p.Gln230Pro) rs145635937 0.00034
NM_003070.5(SMARCA2):c.246C>T (p.Asp82=) rs181403075 0.00029
NM_003070.5(SMARCA2):c.4595-7G>C rs199897032 0.00029
NM_003070.5(SMARCA2):c.97C>T (p.Pro33Ser) rs146990134 0.00024
NM_003070.5(SMARCA2):c.459G>A (p.Pro153=) rs375996388 0.00022
NM_003070.5(SMARCA2):c.3685-6C>A rs201731141 0.00021
NM_003070.5(SMARCA2):c.4207G>A (p.Val1403Met) rs143797398 0.00019
NM_003070.5(SMARCA2):c.4516A>T (p.Ile1506Phe) rs147135956 0.00018
NM_003070.5(SMARCA2):c.*9G>C rs561093327 0.00015
NM_003070.5(SMARCA2):c.677A>C (p.Gln226Pro) rs147609454 0.00015
NM_003070.5(SMARCA2):c.*230T>C rs966867044 0.00014
NM_003070.5(SMARCA2):c.*307C>T rs868705647 0.00012
NM_003070.5(SMARCA2):c.*765T>G rs901166717 0.00011
NM_003070.5(SMARCA2):c.680A>C (p.Gln227Pro) rs940521825 0.00009
NM_003070.5(SMARCA2):c.734A>T (p.Gln245Leu) rs760953290 0.00009
NM_003070.5(SMARCA2):c.957C>G (p.Leu319=) rs368952400 0.00009
NM_003070.5(SMARCA2):c.*537T>C rs759183108 0.00008
NM_003070.5(SMARCA2):c.175A>T (p.Thr59Ser) rs138129490 0.00008
NM_003070.5(SMARCA2):c.*587T>C rs918541411 0.00007
NM_003070.5(SMARCA2):c.1737G>A (p.Pro579=) rs371544356 0.00007
NM_003070.5(SMARCA2):c.1854C>T (p.Asp618=) rs140464170 0.00007
NM_003070.5(SMARCA2):c.*80T>C rs370531788 0.00006
NM_003070.5(SMARCA2):c.3267G>A (p.Arg1089=) rs147154246 0.00006
NM_003070.5(SMARCA2):c.876C>T (p.Pro292=) rs1046917367 0.00006
NM_003070.5(SMARCA2):c.3981+11C>G rs1231425120 0.00004
NM_003070.5(SMARCA2):c.4499A>C (p.Lys1500Thr) rs759970929 0.00004
NM_003070.5(SMARCA2):c.4646G>A (p.Arg1549Gln) rs201798443 0.00004
NM_003070.5(SMARCA2):c.4725G>A (p.Glu1575=) rs61761955 0.00004
NM_003070.5(SMARCA2):c.4737+12C>T rs769322005 0.00004
NM_003070.5(SMARCA2):c.2037-4C>A rs772646899 0.00003
NM_003070.5(SMARCA2):c.324T>A (p.Pro108=) rs150630640 0.00003
NM_003070.5(SMARCA2):c.4247G>C (p.Gly1416Ala) rs3793510 0.00003
NM_003070.5(SMARCA2):c.4257A>C (p.Ser1419=) rs547998868 0.00003
NM_003070.5(SMARCA2):c.701A>C (p.Gln234Pro) rs560604623 0.00003
NM_003070.5(SMARCA2):c.3165T>C (p.Leu1055=) rs369919125 0.00002
NM_003070.5(SMARCA2):c.3939C>T (p.Asp1313=) rs745662991 0.00002
NM_003070.5(SMARCA2):c.4206C>T (p.Asn1402=) rs373924332 0.00002
NM_003070.5(SMARCA2):c.4736G>A (p.Arg1579His) rs138760068 0.00002
NM_003070.5(SMARCA2):c.*29C>T rs758742198 0.00001
NM_003070.5(SMARCA2):c.*782G>A rs1056878965 0.00001
NM_003070.5(SMARCA2):c.1675A>C (p.Arg559=) rs753721830 0.00001
NM_003070.5(SMARCA2):c.1812G>A (p.Lys604=) rs1400253844 0.00001
NM_003070.5(SMARCA2):c.1877+9T>A rs760917036 0.00001
NM_003070.5(SMARCA2):c.2070C>G (p.Ser690Arg) rs1298685112 0.00001
NM_003070.5(SMARCA2):c.2452C>T (p.Leu818=) rs886063776 0.00001
NM_003070.5(SMARCA2):c.2527-3T>C rs781267277 0.00001
NM_003070.5(SMARCA2):c.2907C>T (p.Asp969=) rs761701446 0.00001
NM_003070.5(SMARCA2):c.3768G>A (p.Met1256Ile) rs370403102 0.00001
NM_003070.5(SMARCA2):c.399C>T (p.His133=) rs907788066 0.00001
NM_003070.5(SMARCA2):c.4080T>G (p.Asp1360Glu) rs751758557 0.00001
NM_003070.5(SMARCA2):c.4679G>A (p.Arg1560Gln) rs537631853 0.00001
NM_003070.5(SMARCA2):c.4738-9T>C rs886063796 0.00001
NM_003070.5(SMARCA2):c.597C>T (p.Pro199=) rs747247552 0.00001
NM_003070.5(SMARCA2):c.699G>A (p.Gln233=) rs1563724939 0.00001
NM_003070.5(SMARCA2):c.791-7C>T rs558585794 0.00001
NM_003070.5(SMARCA2):c.890C>A (p.Pro297Gln) rs1417006108 0.00001
NM_003070.5(SMARCA2):c.990C>T (p.Pro330=) rs1440645966 0.00001
NM_003070.5(SMARCA2):c.*101A>C rs749591740
NM_003070.5(SMARCA2):c.*16T>C rs768982865
NM_003070.5(SMARCA2):c.*192G>C rs768360622
NM_003070.5(SMARCA2):c.*197A>G rs886063798
NM_003070.5(SMARCA2):c.*204G>A rs1295221964
NM_003070.5(SMARCA2):c.*324G>C rs550337302
NM_003070.5(SMARCA2):c.*355dup rs541329338
NM_003070.5(SMARCA2):c.*489A>G rs1828016602
NM_003070.5(SMARCA2):c.*5T>C rs886063797
NM_003070.5(SMARCA2):c.*670A>G rs1828028962
NM_003070.5(SMARCA2):c.*694T>G rs886063800
NM_003070.5(SMARCA2):c.*876G>C rs553367571
NM_003070.5(SMARCA2):c.-56G>A rs1818310143
NM_003070.5(SMARCA2):c.105A>G (p.Pro35=) rs1039400951
NM_003070.5(SMARCA2):c.1599C>T (p.Thr533=) rs145129640
NM_003070.5(SMARCA2):c.2290A>G (p.Thr764Ala)
NM_003070.5(SMARCA2):c.2933A>T (p.Tyr978Phe) rs78915420
NM_003070.5(SMARCA2):c.2991+10G>A rs17712152
NM_003070.5(SMARCA2):c.3216C>T (p.Phe1072=) rs770440833
NM_003070.5(SMARCA2):c.3633C>T (p.His1211=) rs1353802111
NM_003070.5(SMARCA2):c.4029T>A (p.Leu1343=) rs150227062
NM_003070.5(SMARCA2):c.4029T>G (p.Leu1343=) rs150227062
NM_003070.5(SMARCA2):c.4584A>G (p.Ser1528=) rs543880790
NM_003070.5(SMARCA2):c.4673C>G (p.Pro1558Arg) rs778494811
NM_003070.5(SMARCA2):c.4701G>A (p.Val1567=) rs886063795
NM_003070.5(SMARCA2):c.483G>T (p.Pro161=) rs146359524
NM_003070.5(SMARCA2):c.517C>T (p.Pro173Ser) rs768229159
NM_003070.5(SMARCA2):c.693G>A (p.Gln231=) rs149130789
NM_003070.5(SMARCA2):c.750A>G (p.Gln250=) rs62639302
NM_003070.5(SMARCA2):c.750A>T (p.Gln250His) rs62639302
NM_003070.5(SMARCA2):c.961C>T (p.Leu321=) rs770243967

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