ClinVar Miner

List of variants in gene NOTCH1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
ClinVar version:
Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=) rs10521 0.43502
NM_017617.5(NOTCH1):c.7233A>G (p.Pro2411=) rs11574911 0.02871
NM_017617.5(NOTCH1):c.2587+20G>A rs148381982 0.01933
NM_017617.5(NOTCH1):c.711C>T (p.Gly237=) rs61751557 0.01860
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489 0.01849
NM_017617.5(NOTCH1):c.2205C>T (p.Asn735=) rs2229970 0.01759
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542 0.01473
NM_017617.5(NOTCH1):c.2468-19G>A rs116515776 0.01328
NM_017617.5(NOTCH1):c.5679C>T (p.Gly1893=) rs2229973 0.01198
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=) rs11574895 0.01135
NM_017617.5(NOTCH1):c.2664C>T (p.His888=) rs61751548 0.01126
NM_017617.5(NOTCH1):c.6648G>A (p.Pro2216=) rs3812596 0.01000
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=) rs148331061 0.00992
NM_017617.5(NOTCH1):c.7515T>G (p.Pro2505=) rs34152221 0.00880
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968 0.00847
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=) rs11574889 0.00824
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=) rs201354526 0.00754
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250 0.00587
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) rs35980907 0.00561
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972 0.00421
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=) rs61751545 0.00394
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=) rs61751488 0.00369
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) rs61751538 0.00341
NM_017617.5(NOTCH1):c.2207+10G>A rs191892426 0.00338
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134 0.00318
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546 0.00283
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=) rs61751536 0.00238
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00221
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) rs61751539 0.00182
NM_017617.5(NOTCH1):c.3511-10G>A rs139838537 0.00180
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=) rs3812602 0.00175
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491 0.00171
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn) rs191357265 0.00156
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553 0.00096
NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His) rs138504021 0.00092
NM_017617.5(NOTCH1):c.1962C>T (p.Thr654=) rs61751554 0.00067
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600 0.00061
NM_017617.5(NOTCH1):c.2136C>A (p.Thr712=) rs369346436 0.00053
NM_017617.5(NOTCH1):c.3249C>T (p.Cys1083=) rs139994842 0.00053
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) rs568700183 0.00046
NM_017617.5(NOTCH1):c.3901+3G>A rs373113999 0.00043
NM_017617.5(NOTCH1):c.2646A>T (p.Ala882=) rs61751550 0.00038
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=) rs377217445 0.00035
NM_017617.5(NOTCH1):c.6636C>T (p.Asp2212=) rs370606059 0.00035
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=) rs374320445 0.00031
NM_017617.5(NOTCH1):c.1100-8C>T rs545088400 0.00028
NM_017617.5(NOTCH1):c.7387G>A (p.Ala2463Thr) rs537210445 0.00021
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) rs202133782 0.00020
NM_017617.5(NOTCH1):c.6685G>A (p.Val2229Met) rs202096917 0.00019
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=) rs374944458 0.00016
NM_017617.5(NOTCH1):c.6509G>A (p.Ser2170Asn) rs200254239 0.00014
NM_017617.5(NOTCH1):c.1914C>T (p.Cys638=) rs373068883 0.00013
NM_017617.5(NOTCH1):c.3643+16C>T rs142023414 0.00013
NM_017617.5(NOTCH1):c.1670-19C>T rs377686947 0.00012
NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=) rs200332386 0.00012
NM_017617.5(NOTCH1):c.2352C>T (p.Ser784=) rs774701000 0.00011
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln) rs368011392 0.00011
NM_017617.5(NOTCH1):c.4096G>A (p.Gly1366Ser) rs778270588 0.00010
NM_017617.5(NOTCH1):c.5414T>C (p.Leu1805Pro) rs201779159 0.00010
NM_017617.5(NOTCH1):c.6744C>T (p.Asn2248=) rs372771288 0.00010
NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln) rs200521815 0.00010
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=) rs61751559 0.00009
NM_017617.5(NOTCH1):c.5019-6G>A rs978561896 0.00009
NM_017617.5(NOTCH1):c.516C>T (p.Gly172=) rs377685034 0.00008
NM_017617.5(NOTCH1):c.5550C>T (p.Ala1850=) rs374451515 0.00006
NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala) rs536167222 0.00006
NM_017617.5(NOTCH1):c.4587-6C>T rs368601709 0.00004
NM_017617.5(NOTCH1):c.5715C>T (p.Asp1905=) rs748200129 0.00004
NM_017617.5(NOTCH1):c.6573G>A (p.Leu2191=) rs758591166 0.00004
NM_017617.5(NOTCH1):c.3510+3G>A rs372739350 0.00003
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met) rs112900950 0.00003
NM_017617.5(NOTCH1):c.4587-5C>G rs780617240 0.00003
NM_017617.5(NOTCH1):c.2112C>T (p.Cys704=) rs757495549 0.00002
NM_017617.5(NOTCH1):c.2917G>A (p.Ala973Thr) rs200699541 0.00002
NM_017617.5(NOTCH1):c.3099C>T (p.Gly1033=) rs775567314 0.00002
NM_017617.5(NOTCH1):c.5422G>A (p.Asp1808Asn) rs571739078 0.00002
NM_017617.5(NOTCH1):c.1255+20G>T rs1253206998 0.00001
NM_017617.5(NOTCH1):c.2712C>T (p.Cys904=) rs369645726 0.00001
NM_017617.5(NOTCH1):c.3510+17G>A rs749934781 0.00001
NM_017617.5(NOTCH1):c.3555C>T (p.Asp1185=) rs530064649 0.00001
NM_017617.5(NOTCH1):c.3908G>A (p.Arg1303His) rs768775024 0.00001
NM_017617.5(NOTCH1):c.4309G>A (p.Gly1437Arg) rs780500109 0.00001
NM_017617.5(NOTCH1):c.5492T>C (p.Leu1831Pro) rs1085307869 0.00001
NM_017617.5(NOTCH1):c.6260G>A (p.Arg2087Gln) rs768543030 0.00001
NM_017617.5(NOTCH1):c.7590C>T (p.Ser2530=) rs371067732 0.00001
NM_017617.5(NOTCH1):c.1443C>T (p.Gly481=) rs2540459742
NM_017617.5(NOTCH1):c.2116G>C (p.Glu706Gln)
NM_017617.5(NOTCH1):c.2468-7C>T rs1843177956
NM_017617.5(NOTCH1):c.2520CGG[1] (p.Gly842del) rs754554370
NM_017617.5(NOTCH1):c.2527G>A (p.Glu843Lys) rs750170645
NM_017617.5(NOTCH1):c.2588-20G>A rs371359766
NM_017617.5(NOTCH1):c.2613C>G (p.Asn871Lys) rs767614547
NM_017617.5(NOTCH1):c.3262G>A (p.Gly1088Ser) rs531420022
NM_017617.5(NOTCH1):c.3900C>G (p.Thr1300=) rs201791826
NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu) rs150343794
NM_017617.5(NOTCH1):c.4923dup (p.Asp1642Ter)
NM_017617.5(NOTCH1):c.5472+19G>C rs755674060
NM_017617.5(NOTCH1):c.5691G>A (p.Thr1897=) rs373612059
NM_017617.5(NOTCH1):c.6351C>T (p.Asn2117=) rs755509796
NM_017617.5(NOTCH1):c.6430G>A (p.Gly2144Ser) rs776577038
NM_017617.5(NOTCH1):c.6719C>T (p.Thr2240Ile)
NM_017617.5(NOTCH1):c.6940C>G (p.Leu2314Val) rs2540421407

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