ClinVar Miner

List of variants reported as likely benign for familial bicuspid aortic valve by Genome-Nilou Lab

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 178
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val) rs188270459 0.00115
NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His) rs138504021 0.00092
NM_017617.5(NOTCH1):c.1389C>T (p.Asn463=) rs61733293 0.00068
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=) rs371365065 0.00058
NM_017617.5(NOTCH1):c.5781G>A (p.Thr1927=) rs367587437 0.00051
NM_017617.5(NOTCH1):c.6108C>T (p.Ala2036=) rs369167693 0.00051
NM_017617.5(NOTCH1):c.3644-4G>A rs376161552 0.00040
NM_017617.5(NOTCH1):c.6636C>T (p.Asp2212=) rs370606059 0.00035
NM_017617.5(NOTCH1):c.5638+19A>G rs368675083 0.00026
NM_017617.5(NOTCH1):c.1950C>T (p.Cys650=) rs147086700 0.00024
NM_017617.5(NOTCH1):c.3114C>T (p.Asp1038=) rs769755236 0.00024
NM_017617.5(NOTCH1):c.6975T>C (p.Pro2325=) rs200814776 0.00023
NM_017617.5(NOTCH1):c.1956G>A (p.Ser652=) rs376101458 0.00022
NM_017617.5(NOTCH1):c.3198G>A (p.Ser1066=) rs199892488 0.00022
NM_017617.5(NOTCH1):c.6685G>A (p.Val2229Met) rs202096917 0.00021
NM_017617.5(NOTCH1):c.2433C>T (p.Ala811=) rs61751552 0.00020
NM_017617.5(NOTCH1):c.7090A>G (p.Ser2364Gly) rs201045092 0.00020
NM_017617.5(NOTCH1):c.2353+13C>T rs200756000 0.00019
NM_017617.5(NOTCH1):c.5384+14G>A rs755122664 0.00019
NM_017617.5(NOTCH1):c.6082+10C>T rs114120958 0.00019
NM_017617.5(NOTCH1):c.3644-5C>T rs371070297 0.00018
NM_017617.5(NOTCH1):c.2427C>T (p.Asp809=) rs775162462 0.00017
NM_017617.5(NOTCH1):c.2148G>A (p.Glu716=) rs376468003 0.00016
NM_017617.5(NOTCH1):c.2718C>T (p.Thr906=) rs200243788 0.00016
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=) rs374944458 0.00016
NM_017617.5(NOTCH1):c.6180+9G>A rs200371378 0.00015
NM_017617.5(NOTCH1):c.1670-19C>T rs377686947 0.00014
NM_017617.5(NOTCH1):c.1914C>T (p.Cys638=) rs373068883 0.00014
NM_017617.5(NOTCH1):c.2085C>T (p.Asp695=) rs200573958 0.00014
NM_017617.5(NOTCH1):c.4905C>T (p.Ala1635=) rs751446074 0.00014
NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=) rs200332386 0.00012
NM_017617.5(NOTCH1):c.4179C>T (p.Gly1393=) rs200664704 0.00012
NM_017617.5(NOTCH1):c.5676G>A (p.Gly1892=) rs763584589 0.00012
NM_017617.5(NOTCH1):c.6568C>T (p.Leu2190=) rs1037034230 0.00012
NM_017617.5(NOTCH1):c.5273G>A (p.Arg1758His) rs373841359 0.00011
NM_017617.5(NOTCH1):c.6057C>T (p.Ala2019=) rs758702512 0.00011
NM_017617.5(NOTCH1):c.1555+16G>A rs368798926 0.00010
NM_017617.5(NOTCH1):c.1670-18G>A rs375041394 0.00010
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=) rs61751559 0.00010
NM_017617.5(NOTCH1):c.5631C>T (p.Arg1877=) rs35627681 0.00010
NM_017617.5(NOTCH1):c.6744C>T (p.Asn2248=) rs372771288 0.00010
NM_017617.5(NOTCH1):c.3966C>T (p.Cys1322=) rs753290862 0.00009
NM_017617.5(NOTCH1):c.4296C>T (p.Phe1432=) rs774697636 0.00009
NM_017617.5(NOTCH1):c.4860C>T (p.Tyr1620=) rs375196212 0.00009
NM_017617.5(NOTCH1):c.5018+14G>A rs936227030 0.00009
NM_017617.5(NOTCH1):c.5019-6G>A rs978561896 0.00009
NM_017617.5(NOTCH1):c.6083-5C>T rs199786076 0.00009
NM_017617.5(NOTCH1):c.2724C>T (p.Ile908=) rs61751547 0.00008
NM_017617.5(NOTCH1):c.5018+13C>T rs752508890 0.00008
NM_017617.5(NOTCH1):c.2014+16C>T rs199814619 0.00007
NM_017617.5(NOTCH1):c.2207+15C>T rs187086513 0.00007
NM_017617.5(NOTCH1):c.2784G>A (p.Thr928=) rs200082362 0.00007
NM_017617.5(NOTCH1):c.4101G>A (p.Pro1367=) rs374921637 0.00007
NM_017617.5(NOTCH1):c.4506C>T (p.Asp1502=) rs751191827 0.00007
NM_017617.5(NOTCH1):c.4551C>T (p.Asp1517=) rs766737406 0.00007
NM_017617.5(NOTCH1):c.2292C>T (p.Asn764=) rs775201110 0.00006
NM_017617.5(NOTCH1):c.2588-16T>G rs781139940 0.00006
NM_017617.5(NOTCH1):c.2741-12G>A rs370769571 0.00006
NM_017617.5(NOTCH1):c.2889C>T (p.Cys963=) rs749585921 0.00006
NM_017617.5(NOTCH1):c.404-13C>G rs766360723 0.00006
NM_017617.5(NOTCH1):c.5118C>T (p.Leu1706=) rs747037396 0.00006
NM_017617.5(NOTCH1):c.558C>T (p.Pro186=) rs756111268 0.00006
NM_017617.5(NOTCH1):c.5853C>T (p.Ser1951=) rs373902356 0.00006
NM_017617.5(NOTCH1):c.6082+18C>T rs200956958 0.00006
NM_017617.5(NOTCH1):c.6783C>T (p.Gly2261=) rs749536941 0.00006
NM_017617.5(NOTCH1):c.6852C>T (p.Thr2284=) rs777957099 0.00006
NM_017617.5(NOTCH1):c.6960G>A (p.Pro2320=) rs768457106 0.00006
NM_017617.5(NOTCH1):c.7251G>A (p.Pro2417=) rs368498380 0.00006
NM_017617.5(NOTCH1):c.7413G>A (p.Ser2471=) rs367706382 0.00006
NM_017617.5(NOTCH1):c.7425C>T (p.Pro2475=) rs772308416 0.00006
NM_017617.5(NOTCH1):c.1125A>G (p.Ala375=) rs371954544 0.00005
NM_017617.5(NOTCH1):c.3326-16A>T rs374731388 0.00005
NM_017617.5(NOTCH1):c.5100C>T (p.Ala1700=) rs376495459 0.00005
NM_017617.5(NOTCH1):c.7356G>A (p.Ala2452=) rs781520893 0.00005
NM_017617.5(NOTCH1):c.743-4G>T rs748001079 0.00005
NM_017617.5(NOTCH1):c.963C>T (p.Cys321=) rs201158068 0.00005
NM_017617.5(NOTCH1):c.1272G>A (p.Glu424=) rs377342874 0.00004
NM_017617.5(NOTCH1):c.1903+10C>G rs375704312 0.00004
NM_017617.5(NOTCH1):c.2772C>T (p.Asp924=) rs762732089 0.00004
NM_017617.5(NOTCH1):c.2868C>T (p.Asn956=) rs760227470 0.00004
NM_017617.5(NOTCH1):c.3918C>T (p.Ser1306=) rs770781173 0.00004
NM_017617.5(NOTCH1):c.4143C>T (p.Pro1381=) rs539950718 0.00004
NM_017617.5(NOTCH1):c.4344G>A (p.Ala1448=) rs763497791 0.00004
NM_017617.5(NOTCH1):c.4467C>T (p.Asn1489=) rs773323801 0.00004
NM_017617.5(NOTCH1):c.4572G>A (p.Ala1524=) rs745794855 0.00004
NM_017617.5(NOTCH1):c.4800G>A (p.Leu1600=) rs761609069 0.00004
NM_017617.5(NOTCH1):c.5070G>A (p.Ser1690=) rs370200858 0.00004
NM_017617.5(NOTCH1):c.5421C>T (p.Asp1807=) rs376590737 0.00004
NM_017617.5(NOTCH1):c.5550C>T (p.Ala1850=) rs374451515 0.00004
NM_017617.5(NOTCH1):c.5715C>T (p.Asp1905=) rs748200129 0.00004
NM_017617.5(NOTCH1):c.5724C>T (p.Ala1908=) rs555773558 0.00004
NM_017617.5(NOTCH1):c.597C>T (p.Val199=) rs747342494 0.00004
NM_017617.5(NOTCH1):c.6822C>A (p.Ser2274=) rs754675254 0.00004
NM_017617.5(NOTCH1):c.7203C>T (p.Asn2401=) rs756434740 0.00004
NM_017617.5(NOTCH1):c.7386C>T (p.Pro2462=) rs369470875 0.00004
NM_017617.5(NOTCH1):c.7569G>A (p.Ser2523=) rs534623042 0.00004
NM_017617.5(NOTCH1):c.1446C>T (p.Tyr482=) rs757373430 0.00003
NM_017617.5(NOTCH1):c.210C>T (p.Asn70=) rs763414200 0.00003
NM_017617.5(NOTCH1):c.2588-5C>T rs764684418 0.00003
NM_017617.5(NOTCH1):c.3012G>A (p.Ser1004=) rs371301397 0.00003
NM_017617.5(NOTCH1):c.3171+12G>A rs753242532 0.00003
NM_017617.5(NOTCH1):c.3405G>A (p.Ala1135=) rs192914380 0.00003
NM_017617.5(NOTCH1):c.3643+17G>A rs376187570 0.00003
NM_017617.5(NOTCH1):c.3644-17G>A rs139960251 0.00003
NM_017617.5(NOTCH1):c.3860G>A (p.Arg1287His) rs763679772 0.00003
NM_017617.5(NOTCH1):c.3901+10G>A rs561404862 0.00003
NM_017617.5(NOTCH1):c.4015-7C>T rs761783451 0.00003
NM_017617.5(NOTCH1):c.411G>A (p.Ser137=) rs560826996 0.00003
NM_017617.5(NOTCH1):c.4713C>T (p.Ala1571=) rs377357743 0.00003
NM_017617.5(NOTCH1):c.5103A>G (p.Ala1701=) rs776610176 0.00003
NM_017617.5(NOTCH1):c.5733C>T (p.Ser1911=) rs61751534 0.00003
NM_017617.5(NOTCH1):c.5892G>A (p.Pro1964=) rs769135138 0.00003
NM_017617.5(NOTCH1):c.621C>T (p.Arg207=) rs756164624 0.00003
NM_017617.5(NOTCH1):c.6753C>T (p.Ala2251=) rs542875894 0.00003
NM_017617.5(NOTCH1):c.7017C>T (p.Ala2339=) rs1342843228 0.00003
NM_017617.5(NOTCH1):c.1731C>T (p.Tyr577=) rs377472138 0.00002
NM_017617.5(NOTCH1):c.1749C>T (p.Gly583=) rs751367001 0.00002
NM_017617.5(NOTCH1):c.2112C>T (p.Cys704=) rs757495549 0.00002
NM_017617.5(NOTCH1):c.3099C>T (p.Gly1033=) rs775567314 0.00002
NM_017617.5(NOTCH1):c.3172-12A>G rs547259185 0.00002
NM_017617.5(NOTCH1):c.3861C>T (p.Arg1287=) rs758031388 0.00002
NM_017617.5(NOTCH1):c.4746G>A (p.Pro1582=) rs886038974 0.00002
NM_017617.5(NOTCH1):c.5916C>T (p.Asp1972=) rs1045892978 0.00002
NM_017617.5(NOTCH1):c.6069C>T (p.Ala2023=) rs375920679 0.00002
NM_017617.5(NOTCH1):c.6321C>T (p.His2107=) rs532201830 0.00002
NM_017617.5(NOTCH1):c.6366G>A (p.Pro2122=) rs762003410 0.00002
NM_017617.5(NOTCH1):c.1099+9C>T rs1057523772 0.00001
NM_017617.5(NOTCH1):c.1278G>A (p.Ala426=) rs781782610 0.00001
NM_017617.5(NOTCH1):c.1335G>A (p.Thr445=) rs564566136 0.00001
NM_017617.5(NOTCH1):c.1407C>T (p.Asp469=) rs1405995623 0.00001
NM_017617.5(NOTCH1):c.1581C>T (p.Tyr527=) rs1299929890 0.00001
NM_017617.5(NOTCH1):c.1788G>A (p.Thr596=) rs925293836 0.00001
NM_017617.5(NOTCH1):c.2745G>A (p.Pro915=) rs766331471 0.00001
NM_017617.5(NOTCH1):c.3441C>T (p.Asp1147=) rs377488165 0.00001
NM_017617.5(NOTCH1):c.351C>T (p.Cys117=) rs768642611 0.00001
NM_017617.5(NOTCH1):c.3643+10G>A rs1159458812 0.00001
NM_017617.5(NOTCH1):c.3663C>T (p.Asn1221=) rs780527525 0.00001
NM_017617.5(NOTCH1):c.3684C>T (p.Pro1228=) rs753711100 0.00001
NM_017617.5(NOTCH1):c.3723C>T (p.Asn1241=) rs369637862 0.00001
NM_017617.5(NOTCH1):c.408A>G (p.Lys136=) rs769259782 0.00001
NM_017617.5(NOTCH1):c.4263C>T (p.Asn1421=) rs547687521 0.00001
NM_017617.5(NOTCH1):c.4410C>T (p.His1470=) rs750183248 0.00001
NM_017617.5(NOTCH1):c.4428C>T (p.Gly1476=) rs765751888 0.00001
NM_017617.5(NOTCH1):c.4710G>A (p.Ala1570=) rs773978978 0.00001
NM_017617.5(NOTCH1):c.4719G>A (p.Thr1573=) rs775105774 0.00001
NM_017617.5(NOTCH1):c.5160C>T (p.Ala1720=) rs780625273 0.00001
NM_017617.5(NOTCH1):c.5184G>A (p.Pro1728=) rs760548371 0.00001
NM_017617.5(NOTCH1):c.5595T>A (p.Gly1865=) rs767493892 0.00001
NM_017617.5(NOTCH1):c.6204C>T (p.Ala2068=) rs767118276 0.00001
NM_017617.5(NOTCH1):c.6223G>A (p.Glu2075Lys) rs549258808 0.00001
NM_017617.5(NOTCH1):c.6408G>A (p.Ser2136=) rs933773128 0.00001
NM_017617.5(NOTCH1):c.687C>T (p.Asn229=) rs535217359 0.00001
NM_017617.5(NOTCH1):c.7075C>T (p.Leu2359=) rs374362224 0.00001
NM_017617.5(NOTCH1):c.1904-16C>T rs775848413
NM_017617.5(NOTCH1):c.2496G>A (p.Pro832=) rs61751551
NM_017617.5(NOTCH1):c.2514C>T (p.Cys838=) rs1554728839
NM_017617.5(NOTCH1):c.3315G>A (p.Ala1105=) rs3812602
NM_017617.5(NOTCH1):c.3345G>T (p.Leu1115=) rs752440904
NM_017617.5(NOTCH1):c.3579G>A (p.Gln1193=) rs61751544
NM_017617.5(NOTCH1):c.404-5T>C rs1229789449
NM_017617.5(NOTCH1):c.4335C>T (p.Ile1445=) rs373960609
NM_017617.5(NOTCH1):c.4560C>T (p.Asp1520=) rs1057523575
NM_017617.5(NOTCH1):c.5016C>T (p.Arg1672=) rs1251609154
NM_017617.5(NOTCH1):c.5124G>A (p.Ser1708=) rs35980907
NM_017617.5(NOTCH1):c.5168-7C>T rs1589056781
NM_017617.5(NOTCH1):c.580A>C (p.Thr194Pro) rs770333242
NM_017617.5(NOTCH1):c.6018C>T (p.Ala2006=) rs748935957
NM_017617.5(NOTCH1):c.608G>A (p.Arg203His) rs182763411
NM_017617.5(NOTCH1):c.6180+9G>T rs200371378
NM_017617.5(NOTCH1):c.6570G>C (p.Leu2190=) rs200630233
NM_017617.5(NOTCH1):c.6597C>T (p.Pro2199=) rs374640663
NM_017617.5(NOTCH1):c.6666G>A (p.Pro2222=) rs202229687
NM_017617.5(NOTCH1):c.672C>T (p.Pro224=) rs777019253
NM_017617.5(NOTCH1):c.6739C>T (p.Leu2247=) rs377165086
NM_017617.5(NOTCH1):c.6966A>G (p.Gln2322=) rs1318983291
NM_017617.5(NOTCH1):c.7232CAC[4] (p.Pro2415del) rs762336270
NM_017617.5(NOTCH1):c.750C>A (p.Thr250=) rs375772590
NM_017617.5(NOTCH1):c.7575G>C (p.Pro2525=) rs375576856

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