ClinVar Miner

List of variants in gene combination LOC126860794, NOTCH1

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Gene type:
ClinVar version:
Total variants: 148
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.6180+176T>C rs3124593 0.70073
NM_017617.5(NOTCH1):c.6180+284G>A rs7852557 0.58409
NM_017617.5(NOTCH1):c.6180+189C>T rs3124592 0.55708
NM_017617.5(NOTCH1):c.6180+44T>C rs9632944 0.12332
NM_017617.5(NOTCH1):c.6180+126G>A rs79872302 0.00985
NM_017617.5(NOTCH1):c.6180+151C>T rs75949473 0.00586
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=) rs186453356 0.00236
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=) rs188357478 0.00108
NM_017617.5(NOTCH1):c.5967T>C (p.Asp1989=) rs73668311 0.00061
NM_017617.5(NOTCH1):c.6108C>T (p.Ala2036=) rs369167693 0.00046
NM_017617.5(NOTCH1):c.6082+10C>T rs114120958 0.00019
NM_017617.5(NOTCH1):c.6180+9G>A rs200371378 0.00015
NM_017617.5(NOTCH1):c.6057C>T (p.Ala2019=) rs758702512 0.00010
NM_017617.5(NOTCH1):c.6083-5C>T rs199786076 0.00009
NM_017617.5(NOTCH1):c.6120T>C (p.Asn2040=) rs201625763 0.00009
NM_017617.5(NOTCH1):c.6083-4G>A rs570242146 0.00008
NM_017617.5(NOTCH1):c.6082+18C>T rs200956958 0.00007
NM_017617.5(NOTCH1):c.6090C>T (p.Ser2030=) rs773621396 0.00005
NM_017617.5(NOTCH1):c.6083-15G>C rs935662425 0.00004
NM_017617.5(NOTCH1):c.6150C>T (p.Asn2050=) rs757372588 0.00004
NM_017617.5(NOTCH1):c.5964G>C (p.Leu1988=) rs967233612 0.00003
NM_017617.5(NOTCH1):c.5991G>A (p.Thr1997=) rs577642121 0.00003
NM_017617.5(NOTCH1):c.6082+19G>A rs780533166 0.00003
NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr) rs544856644 0.00003
NM_017617.5(NOTCH1):c.6149A>G (p.Asn2050Ser) rs759344174 0.00003
NM_017617.5(NOTCH1):c.6180+8C>T rs769015966 0.00003
NM_017617.5(NOTCH1):c.5935-11C>T rs768074148 0.00002
NM_017617.5(NOTCH1):c.6019G>A (p.Val2007Met) rs374168429 0.00002
NM_017617.5(NOTCH1):c.6054C>T (p.His2018=) rs202198360 0.00002
NM_017617.5(NOTCH1):c.6065A>G (p.Asn2022Ser) rs369621601 0.00002
NM_017617.5(NOTCH1):c.6069C>T (p.Ala2023=) rs375920679 0.00002
NM_017617.5(NOTCH1):c.6083-10T>G rs1380449680 0.00002
NM_017617.5(NOTCH1):c.5935-19G>A rs375090448 0.00001
NM_017617.5(NOTCH1):c.5944C>T (p.Arg1982Trp) rs764422420 0.00001
NM_017617.5(NOTCH1):c.5945G>A (p.Arg1982Gln) rs763052700 0.00001
NM_017617.5(NOTCH1):c.5971C>T (p.Arg1991Cys) rs759553984 0.00001
NM_017617.5(NOTCH1):c.5972G>A (p.Arg1991His) rs1371022203 0.00001
NM_017617.5(NOTCH1):c.5981A>G (p.Asp1994Gly) rs1454512890 0.00001
NM_017617.5(NOTCH1):c.5987C>T (p.Thr1996Met) rs773137647 0.00001
NM_017617.5(NOTCH1):c.5995C>T (p.Leu1999=) rs1208814818 0.00001
NM_017617.5(NOTCH1):c.6013C>T (p.Leu2005=) rs557773323 0.00001
NM_017617.5(NOTCH1):c.6025G>A (p.Gly2009Ser) rs1842960316 0.00001
NM_017617.5(NOTCH1):c.6058G>A (p.Asp2020Asn) rs752928106 0.00001
NM_017617.5(NOTCH1):c.6060C>T (p.Asp2020=) rs765374882 0.00001
NM_017617.5(NOTCH1):c.6061G>A (p.Val2021Ile) rs759643831 0.00001
NM_017617.5(NOTCH1):c.6066C>T (p.Asn2022=) rs553831698 0.00001
NM_017617.5(NOTCH1):c.6067G>A (p.Ala2023Thr) rs1181025067 0.00001
NM_017617.5(NOTCH1):c.6072A>T (p.Val2024=) rs1842959494 0.00001
NM_017617.5(NOTCH1):c.6082+3G>A rs1402431855 0.00001
NM_017617.5(NOTCH1):c.6082+6C>T rs1842959338 0.00001
NM_017617.5(NOTCH1):c.6083-16T>G rs1050080917 0.00001
NM_017617.5(NOTCH1):c.6084C>G (p.Gly2028=) rs1060504524 0.00001
NM_017617.5(NOTCH1):c.6087G>A (p.Lys2029=) rs746460306 0.00001
NM_017617.5(NOTCH1):c.6091G>A (p.Ala2031Thr) rs932710972 0.00001
NM_017617.5(NOTCH1):c.6099C>T (p.His2033=) rs527690078 0.00001
NM_017617.5(NOTCH1):c.6106G>A (p.Ala2036Thr) rs542300217 0.00001
NM_017617.5(NOTCH1):c.6111C>T (p.Ala2037=) rs749488166 0.00001
NM_017617.5(NOTCH1):c.6119A>G (p.Asn2040Ser) rs780257585 0.00001
NM_017617.5(NOTCH1):c.6131C>T (p.Ala2044Val) rs1085307562 0.00001
NM_017617.5(NOTCH1):c.6135T>C (p.Val2045=) rs920077656 0.00001
NM_017617.5(NOTCH1):c.6152G>A (p.Gly2051Glu) rs1589054356 0.00001
NM_017617.5(NOTCH1):c.6156T>A (p.Ala2052=) rs768912472 0.00001
NM_017617.5(NOTCH1):c.6167T>C (p.Met2056Thr) rs1233090768 0.00001
NM_017617.5(NOTCH1):c.6180+6C>T rs577581469 0.00001
NM_017617.5(NOTCH1):c.3171+1_5935-1del
NM_017617.5(NOTCH1):c.5935-10T>G
NM_017617.5(NOTCH1):c.5935-14T>C
NM_017617.5(NOTCH1):c.5935-5C>T
NM_017617.5(NOTCH1):c.5944C>A (p.Arg1982=) rs764422420
NM_017617.5(NOTCH1):c.5950C>T (p.Arg1984Ter) rs1554826746
NM_017617.5(NOTCH1):c.5952A>G (p.Arg1984=) rs2133323187
NM_017617.5(NOTCH1):c.5961C>T (p.Asp1987=) rs775610458
NM_017617.5(NOTCH1):c.5965G>A (p.Asp1989Asn) rs587777734
NM_017617.5(NOTCH1):c.5965G>C (p.Asp1989His) rs587777734
NM_017617.5(NOTCH1):c.5979T>C (p.His1993=)
NM_017617.5(NOTCH1):c.5982T>C (p.Asp1994=)
NM_017617.5(NOTCH1):c.5988G>C (p.Thr1996=)
NM_017617.5(NOTCH1):c.5991G>C (p.Thr1997=)
NM_017617.5(NOTCH1):c.5994A>G (p.Pro1998=)
NM_017617.5(NOTCH1):c.6000C>G (p.Ile2000Met) rs773987257
NM_017617.5(NOTCH1):c.6003G>C (p.Leu2001=)
NM_017617.5(NOTCH1):c.6008C>T (p.Ala2003Val) rs934521378
NM_017617.5(NOTCH1):c.6009C>T (p.Ala2003=) rs2133322877
NM_017617.5(NOTCH1):c.6010C>T (p.Arg2004Cys) rs1589054589
NM_017617.5(NOTCH1):c.6011G>A (p.Arg2004His)
NM_017617.5(NOTCH1):c.6016G>A (p.Ala2006Thr) rs1842960512
NM_017617.5(NOTCH1):c.6018C>A (p.Ala2006=)
NM_017617.5(NOTCH1):c.6018C>T (p.Ala2006=) rs748935957
NM_017617.5(NOTCH1):c.6026G>A (p.Gly2009Asp) rs1842960290
NM_017617.5(NOTCH1):c.6027C>T (p.Gly2009=) rs1232741465
NM_017617.5(NOTCH1):c.6028A>T (p.Met2010Leu) rs1085307554
NM_017617.5(NOTCH1):c.6029T>C (p.Met2010Thr) rs2133322772
NM_017617.5(NOTCH1):c.6032T>C (p.Leu2011Pro) rs1589054568
NM_017617.5(NOTCH1):c.6045del (p.Asn2016fs) rs1554826736
NM_017617.5(NOTCH1):c.6049_6050del (p.Ser2017fs) rs864622063
NM_017617.5(NOTCH1):c.6051A>T (p.Ser2017=)
NM_017617.5(NOTCH1):c.6054C>A (p.His2018Gln) rs202198360
NM_017617.5(NOTCH1):c.6055G>A (p.Ala2019Thr) rs3812597
NM_017617.5(NOTCH1):c.6057C>G (p.Ala2019=) rs758702512
NM_017617.5(NOTCH1):c.6061G>T (p.Val2021Phe) rs759643831
NM_017617.5(NOTCH1):c.6063C>T (p.Val2021=) rs1589054533
NM_017617.5(NOTCH1):c.6070G>A (p.Val2024Ile) rs774262180
NM_017617.5(NOTCH1):c.6072A>G (p.Val2024=)
NM_017617.5(NOTCH1):c.6074A>G (p.Asp2025Gly)
NM_017617.5(NOTCH1):c.6082+11G>A rs775315894
NM_017617.5(NOTCH1):c.6082+15G>T
NM_017617.5(NOTCH1):c.6082+16C>T
NM_017617.5(NOTCH1):c.6082+5G>A rs1280026920
NM_017617.5(NOTCH1):c.6082+6C>G rs1842959338
NM_017617.5(NOTCH1):c.6083-17C>A
NM_017617.5(NOTCH1):c.6083-20C>T
NM_017617.5(NOTCH1):c.6083-3C>T rs770358205
NM_017617.5(NOTCH1):c.6090C>G (p.Ser2030=) rs773621396
NM_017617.5(NOTCH1):c.6094C>T (p.Leu2032=) rs1060504525
NM_017617.5(NOTCH1):c.6096G>A (p.Leu2032=) rs2133321884
NM_017617.5(NOTCH1):c.6100T>C (p.Trp2034Arg) rs1554826698
NM_017617.5(NOTCH1):c.6107C>G (p.Ala2036Gly)
NM_017617.5(NOTCH1):c.6109G>T (p.Ala2037Ser) rs1060502237
NM_017617.5(NOTCH1):c.6111C>A (p.Ala2037=) rs749488166
NM_017617.5(NOTCH1):c.6111C>G (p.Ala2037=) rs749488166
NM_017617.5(NOTCH1):c.6116A>G (p.Asn2039Ser) rs2133321785
NM_017617.5(NOTCH1):c.6117C>T (p.Asn2039=) rs2133321780
NM_017617.5(NOTCH1):c.6128C>T (p.Ala2043Val) rs1554826688
NM_017617.5(NOTCH1):c.6129C>G (p.Ala2043=)
NM_017617.5(NOTCH1):c.6129C>T (p.Ala2043=) rs563053477
NM_017617.5(NOTCH1):c.6130G>T (p.Ala2044Ser) rs544856644
NM_017617.5(NOTCH1):c.6137T>C (p.Val2046Ala) rs1374171839
NM_017617.5(NOTCH1):c.6138G>A (p.Val2046=) rs2133321656
NM_017617.5(NOTCH1):c.6147G>C (p.Lys2049Asn) rs2133321599
NM_017617.5(NOTCH1):c.6151G>A (p.Gly2051Arg) rs1842956333
NM_017617.5(NOTCH1):c.6152G>C (p.Gly2051Ala) rs1589054356
NM_017617.5(NOTCH1):c.6153G>A (p.Gly2051=) rs1554826678
NM_017617.5(NOTCH1):c.6154G>T (p.Ala2052Ser)
NM_017617.5(NOTCH1):c.6157A>C (p.Asn2053His) rs1474607963
NM_017617.5(NOTCH1):c.6157A>G (p.Asn2053Asp) rs1474607963
NM_017617.5(NOTCH1):c.6159C>A (p.Asn2053Lys) rs2133321530
NM_017617.5(NOTCH1):c.6173ACA[1] (p.Asn2059del) rs1057518096
NM_017617.5(NOTCH1):c.6174C>T (p.Asn2058=)
NM_017617.5(NOTCH1):c.6175A>G (p.Asn2059Asp) rs1454265367
NM_017617.5(NOTCH1):c.6177C>G (p.Asn2059Lys)
NM_017617.5(NOTCH1):c.6177C>T (p.Asn2059=) rs992614355
NM_017617.5(NOTCH1):c.6180+11G>T rs2133321375
NM_017617.5(NOTCH1):c.6180+13C>A rs1303958303
NM_017617.5(NOTCH1):c.6180+19T>C rs2133321339
NM_017617.5(NOTCH1):c.6180+1G>T rs1842955649
NM_017617.5(NOTCH1):c.6180+3G>T rs371301632
NM_017617.5(NOTCH1):c.6180+9G>C rs200371378
NM_017617.5(NOTCH1):c.6180+9G>T rs200371378

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