ClinVar Miner

List of variants in gene SCN4B studied for congenital anomaly of cardiovascular system

Included ClinVar conditions (334):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 163
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HGVS dbSNP gnomAD frequency
NM_174934.4(SCN4B):c.*3054T>C rs3741315 0.59553
NM_174934.4(SCN4B):c.*785G>A rs1814964 0.57662
NM_174934.4(SCN4B):c.*1334G>A rs7124127 0.51745
NM_174934.4(SCN4B):c.*924_*934dup rs1370870059 0.30565
NM_174934.4(SCN4B):c.*2120A>C rs45460396 0.24417
NM_174934.4(SCN4B):c.*2879T>C rs45584835 0.24415
NM_174934.4(SCN4B):c.*2623A>G rs868344 0.24112
NM_174934.4(SCN4B):c.174C>T (p.Cys58=) rs45539032 0.03816
NM_174934.4(SCN4B):c.*1962C>T rs7934994 0.01416
NM_174934.4(SCN4B):c.*979C>A rs541268607 0.01330
NM_174934.4(SCN4B):c.*2952G>A rs76776242 0.01280
NM_174934.4(SCN4B):c.*1071T>C rs117263855 0.01170
NM_174934.4(SCN4B):c.*2496C>T rs114345754 0.01089
NM_174934.4(SCN4B):c.*889G>A rs113579428 0.01073
NM_174934.4(SCN4B):c.*1164G>A rs1793158 0.00807
NM_174934.4(SCN4B):c.*1842G>C rs117471801 0.00566
NM_174934.4(SCN4B):c.*2785C>T rs77548426 0.00502
NM_174934.4(SCN4B):c.639C>T (p.Asn213=) rs72544155 0.00341
NM_174934.4(SCN4B):c.*988_*989insA rs5795119 0.00318
NM_174934.4(SCN4B):c.*362G>T rs72546681 0.00269
NM_174934.4(SCN4B):c.*905C>G rs565174265 0.00189
NM_174934.4(SCN4B):c.*2497G>A rs181429015 0.00176
NM_174934.4(SCN4B):c.*3279G>A rs145392070 0.00156
NM_174934.4(SCN4B):c.*1430G>A rs45548134 0.00154
NM_174934.4(SCN4B):c.*3549G>A rs149963368 0.00134
NM_174934.4(SCN4B):c.*2137C>G rs565447765 0.00104
NM_174934.3(SCN4B):c.-222T>A rs191321129 0.00084
NM_174934.4(SCN4B):c.480C>T (p.Asn160=) rs72546675 0.00083
NM_174934.4(SCN4B):c.*2939G>C rs757631990 0.00077
NM_174934.4(SCN4B):c.*961A>G rs561492722 0.00058
NM_174934.4(SCN4B):c.542T>C (p.Leu181Pro) rs61065977 0.00047
NM_174934.4(SCN4B):c.*2220G>T rs190737124 0.00044
NM_174934.4(SCN4B):c.*2977A>G rs369720674 0.00041
NM_174934.4(SCN4B):c.*1819C>T rs534802709 0.00036
NM_174934.4(SCN4B):c.*2196G>A rs769472607 0.00031
NM_174934.4(SCN4B):c.607G>A (p.Val203Met) rs150312046 0.00031
NM_174934.4(SCN4B):c.194A>T (p.His65Leu) rs112363898 0.00025
NM_174934.4(SCN4B):c.18C>A (p.Asp6Glu) rs149979176 0.00021
NM_174934.4(SCN4B):c.520A>G (p.Ile174Val) rs377730779 0.00019
NM_174934.4(SCN4B):c.*670G>T rs182613927 0.00016
NM_174934.4(SCN4B):c.*1820G>A rs45539741 0.00010
NM_174934.4(SCN4B):c.617C>T (p.Ser206Leu) rs140348243 0.00010
NM_174934.4(SCN4B):c.22G>A (p.Gly8Ser) rs149868494 0.00009
NM_174934.3(SCN4B):c.-223G>T rs867824819 0.00008
NM_174934.4(SCN4B):c.*1053T>C rs191989669 0.00006
NM_174934.4(SCN4B):c.*449G>A rs67276909 0.00006
NM_174934.4(SCN4B):c.*489T>C rs886047728 0.00006
NM_174934.4(SCN4B):c.-116G>A rs886047733 0.00006
NM_174934.4(SCN4B):c.469G>C (p.Glu157Gln) rs746647997 0.00006
NM_174934.4(SCN4B):c.640G>A (p.Gly214Ser) rs367988277 0.00006
NM_174934.4(SCN4B):c.*680C>A rs886047727 0.00005
NM_174934.4(SCN4B):c.633G>A (p.Thr211=) rs111905160 0.00005
NM_174934.4(SCN4B):c.*2918A>G rs570654511 0.00004
NM_174934.4(SCN4B):c.*471A>T rs539487703 0.00004
NM_174934.4(SCN4B):c.507C>T (p.Val169=) rs759761004 0.00004
NM_174934.4(SCN4B):c.-15G>A rs777218649 0.00003
NM_174934.4(SCN4B):c.482C>G (p.Thr161Arg) rs750329453 0.00003
NM_174934.4(SCN4B):c.*1007G>A rs886047725 0.00002
NM_174934.4(SCN4B):c.34G>A (p.Ala12Thr) rs752598271 0.00002
NM_174934.4(SCN4B):c.464-11G>A rs773494545 0.00002
NM_174934.4(SCN4B):c.568A>C (p.Ile190Leu) rs757147726 0.00002
NM_174934.4(SCN4B):c.593+10T>C rs751802844 0.00002
NM_174934.4(SCN4B):c.594-2A>G rs375535030 0.00002
NM_174934.4(SCN4B):c.627C>T (p.Asp209=) rs371872353 0.00002
NM_174934.4(SCN4B):c.658G>A (p.Ala220Thr) rs1235880227 0.00002
NM_174934.3(SCN4B):c.-204C>G rs886047734 0.00001
NM_174934.4(SCN4B):c.*1193T>C rs886047724 0.00001
NM_174934.4(SCN4B):c.*1343C>T rs886047723 0.00001
NM_174934.4(SCN4B):c.*1810C>T rs200930587 0.00001
NM_174934.4(SCN4B):c.*2080G>T rs375933863 0.00001
NM_174934.4(SCN4B):c.*2268C>T rs886047720 0.00001
NM_174934.4(SCN4B):c.*2487G>C rs886047718 0.00001
NM_174934.4(SCN4B):c.*258T>A rs886047730 0.00001
NM_174934.4(SCN4B):c.*2876T>C rs886047716 0.00001
NM_174934.4(SCN4B):c.*3004G>A rs751855090 0.00001
NM_174934.4(SCN4B):c.*434T>C rs886047729 0.00001
NM_174934.4(SCN4B):c.*868C>A rs549353088 0.00001
NM_174934.4(SCN4B):c.103G>A (p.Val35Met) rs1322792651 0.00001
NM_174934.4(SCN4B):c.115A>G (p.Thr39Ala) rs756210130 0.00001
NM_174934.4(SCN4B):c.198C>G (p.Phe66Leu) rs746892195 0.00001
NM_174934.4(SCN4B):c.21A>G (p.Gly7=) rs1332884912 0.00001
NM_174934.4(SCN4B):c.234+14G>A rs1300967093 0.00001
NM_174934.4(SCN4B):c.33G>C (p.Pro11=) rs755861941 0.00001
NM_174934.4(SCN4B):c.40T>G (p.Trp14Gly) rs946169910 0.00001
NM_174934.4(SCN4B):c.513C>T (p.Gly171=) rs368141412 0.00001
NM_174934.4(SCN4B):c.535C>T (p.Leu179Phe) rs121434386 0.00001
NM_174934.4(SCN4B):c.544C>G (p.Leu182Val) rs771565684 0.00001
NM_174934.4(SCN4B):c.546G>A (p.Leu182=) rs1306208725 0.00001
NM_174934.4(SCN4B):c.579G>A (p.Lys193=) rs202087057 0.00001
NM_174934.4(SCN4B):c.599A>G (p.Glu200Gly) rs750707860 0.00001
NM_174934.4(SCN4B):c.606C>T (p.Leu202=) rs1047192753 0.00001
NM_174934.4(SCN4B):c.61+1G>A rs377558816 0.00001
NM_174934.4(SCN4B):c.624T>C (p.Asn208=) rs770446500 0.00001
NM_174934.4(SCN4B):c.630C>T (p.Asn210=) rs1418864816 0.00001
NM_174934.4(SCN4B):c.649G>T (p.Gly217Cys) rs371609756 0.00001
NM_174934.4(SCN4B):c.78C>T (p.Pro26=) rs1326784999 0.00001
NC_000011.9:g.(?_118014528)_(118015964_?)del
NM_174934.3(SCN4B):c.-178C>T rs865930367
NM_174934.4(SCN4B):c.*1410C>T rs886047722
NM_174934.4(SCN4B):c.*1993del rs886047721
NM_174934.4(SCN4B):c.*2324A>T rs886047719
NM_174934.4(SCN4B):c.*2591G>T rs886047717
NM_174934.4(SCN4B):c.*3607_*3611del rs569520041
NM_174934.4(SCN4B):c.*3632del rs886047715
NM_174934.4(SCN4B):c.*524dup rs66491110
NM_174934.4(SCN4B):c.*812A>C rs1317544
NM_174934.4(SCN4B):c.*812A>G rs1317544
NM_174934.4(SCN4B):c.*986C>G rs28675746
NM_174934.4(SCN4B):c.*986C>T rs28675746
NM_174934.4(SCN4B):c.*987C>G rs559032799
NM_174934.4(SCN4B):c.*989dup rs5795117
NM_174934.4(SCN4B):c.*990del rs747111771
NM_174934.4(SCN4B):c.100T>C (p.Ser34Pro) rs1948155711
NM_174934.4(SCN4B):c.104T>C (p.Val35Ala)
NM_174934.4(SCN4B):c.112G>A (p.Ala38Thr) rs777894412
NM_174934.4(SCN4B):c.112G>C (p.Ala38Pro) rs777894412
NM_174934.4(SCN4B):c.127G>A (p.Ala43Thr) rs886047732
NM_174934.4(SCN4B):c.133A>C (p.Asn45His)
NM_174934.4(SCN4B):c.156C>G (p.Pro52=) rs1263610504
NM_174934.4(SCN4B):c.160A>C (p.Thr54Pro)
NM_174934.4(SCN4B):c.171C>A (p.Ser57Arg) rs2135505183
NM_174934.4(SCN4B):c.176T>C (p.Phe59Ser) rs764865890
NM_174934.4(SCN4B):c.200G>A (p.Arg67Gln)
NM_174934.4(SCN4B):c.200G>T (p.Arg67Leu) rs147332112
NM_174934.4(SCN4B):c.233T>G (p.Ile78Ser) rs1276703232
NM_174934.4(SCN4B):c.234+1G>A rs1341627207
NM_174934.4(SCN4B):c.33G>A (p.Pro11=) rs755861941
NM_174934.4(SCN4B):c.42G>T (p.Trp14Cys)
NM_174934.4(SCN4B):c.464-14C>T
NM_174934.4(SCN4B):c.475G>C (p.Asp159His) rs1565455142
NM_174934.4(SCN4B):c.485T>G (p.Val162Gly) rs587777559
NM_174934.4(SCN4B):c.496A>C (p.Ile166Leu) rs587777560
NM_174934.4(SCN4B):c.501G>A (p.Leu167=)
NM_174934.4(SCN4B):c.505G>A (p.Val169Ile)
NM_174934.4(SCN4B):c.508G>A (p.Val170Met)
NM_174934.4(SCN4B):c.531CATCCT[1] (p.178IL[1]) rs1447414158
NM_174934.4(SCN4B):c.554A>G (p.Lys185Arg)
NM_174934.4(SCN4B):c.555A>G (p.Lys185=) rs2135501534
NM_174934.4(SCN4B):c.570C>A (p.Ile190=)
NM_174934.4(SCN4B):c.583C>T (p.Arg195Trp) rs945490950
NM_174934.4(SCN4B):c.584G>A (p.Arg195Gln)
NM_174934.4(SCN4B):c.589A>G (p.Lys197Glu) rs1230446349
NM_174934.4(SCN4B):c.594-15T>C
NM_174934.4(SCN4B):c.594-17TC[2] rs745759292
NM_174934.4(SCN4B):c.594-7T>A
NM_174934.4(SCN4B):c.596A>G (p.Lys199Arg) rs758628437
NM_174934.4(SCN4B):c.597G>A (p.Lys199=) rs372596382
NM_174934.4(SCN4B):c.61+1144T>A rs2135509745
NM_174934.4(SCN4B):c.61+14A>G
NM_174934.4(SCN4B):c.61+15G>C
NM_174934.4(SCN4B):c.613T>A (p.Ser205Thr) rs761183228
NM_174934.4(SCN4B):c.613T>C (p.Ser205Pro) rs761183228
NM_174934.4(SCN4B):c.620G>T (p.Gly207Val)
NM_174934.4(SCN4B):c.632C>G (p.Thr211Arg) rs201454653
NM_174934.4(SCN4B):c.632C>T (p.Thr211Met) rs201454653
NM_174934.4(SCN4B):c.636_637dup (p.Asn213fs)
NM_174934.4(SCN4B):c.641G>T (p.Gly214Val)
NM_174934.4(SCN4B):c.647C>G (p.Pro216Arg)
NM_174934.4(SCN4B):c.652T>G (p.Ser218Ala)
NM_174934.4(SCN4B):c.661G>C (p.Glu221Gln)
NM_174934.4(SCN4B):c.676del (p.Ser226fs)
NM_174934.4(SCN4B):c.75C>T (p.Leu25=) rs1277058252
NM_174934.4(SCN4B):c.89_94delinsAGCGACACCCTGT (p.Ser30_Glu32delinsTer) rs1948156091

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