ClinVar Miner

List of variants studied for hypertensive disorder by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 465
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HGVS dbSNP gnomAD frequency
NC_000001.11:g.230705941T>C rs7080 0.94659
NM_000603.5(NOS3):c.894T>G (p.Asp298Glu) rs1799983 0.76319
NM_000685.5(AGTR1):c.*86A>C rs5186 0.20976
NM_001204.7(BMPR2):c.600A>C (p.Leu200=) rs55722784 0.01458
NM_006513.4(SARS1):c.1160G>A (p.Gly387Glu) rs140717526 0.00927
NM_006513.4(SARS1):c.1387+8T>C rs74854256 0.00920
NM_001204.7(BMPR2):c.-301G>A rs116154690 0.00917
NM_017827.4(SARS2):c.273G>A (p.Ser91=) rs144229840 0.00672
NM_001204.7(BMPR2):c.-669G>A rs115604088 0.00624
NM_017827.4(SARS2):c.364-14C>T rs150151686 0.00412
NM_002246.3(KCNK3):c.654G>T (p.Pro218=) rs34292597 0.00407
NC_000001.11:g.230710441G>A rs34829218 0.00316
NC_000001.11:g.230706145G>A rs61757178 0.00280
NC_000001.11:g.230703274G>A rs61751077 0.00138
NM_017827.4(SARS2):c.963-17T>C rs201465773 0.00136
NM_001127217.3(SMAD9):c.1004-8G>A rs146507864 0.00131
NM_017827.4(SARS2):c.696C>T (p.Arg232=) rs35389151 0.00118
NM_001204.7(BMPR2):c.*815C>T rs184240459 0.00103
NM_001204.7(BMPR2):c.*2833G>A rs77006932 0.00096
NM_000603.5(NOS3):c.465C>G (p.Ala155=) rs200774720 0.00080
NM_001204.7(BMPR2):c.*2854T>G rs752981394 0.00078
NM_001753.5(CAV1):c.30+20C>T rs34592877 0.00070
NM_001127217.3(SMAD9):c.828C>T (p.Val276=) rs142675092 0.00063
NM_001204.7(BMPR2):c.*5252A>G rs528034202 0.00056
NM_017827.4(SARS2):c.576C>T (p.Val192=) rs150249937 0.00048
NM_001204.7(BMPR2):c.-407G>T rs886055468 0.00045
NM_001753.5(CAV1):c.246C>T (p.Asp82=) rs35242077 0.00045
NM_001204.7(BMPR2):c.63C>T (p.Val21=) rs149973695 0.00040
NM_001204.7(BMPR2):c.*5624A>G rs570949250 0.00032
NM_001204.7(BMPR2):c.-434G>A rs766982703 0.00032
NM_000685.5(AGTR1):c.1017C>T (p.Tyr339=) rs138545856 0.00031
NM_002246.3(KCNK3):c.1014G>A (p.Thr338=) rs375930383 0.00031
NM_017827.4(SARS2):c.17C>T (p.Ala6Val) rs201988841 0.00029
NM_001204.7(BMPR2):c.549T>C (p.Leu183=) rs142769493 0.00027
NC_000001.11:g.230703298G>A rs61751076 0.00026
NM_017827.4(SARS2):c.91A>C (p.Arg31=) rs138274440 0.00025
NC_000001.11:g.230710439C>A rs61762539 0.00021
NM_001204.7(BMPR2):c.*7080G>A rs886055494 0.00021
NM_001127217.3(SMAD9):c.1260+17A>C rs374987262 0.00018
NM_002246.3(KCNK3):c.953G>A (p.Arg318His) rs150626749 0.00018
NM_000685.5(AGTR1):c.893A>G (p.Asn298Ser) rs368951368 0.00016
NM_017827.4(SARS2):c.-5C>A rs376534605 0.00015
NM_017827.4(SARS2):c.353G>A (p.Arg118Gln) rs377601567 0.00015
NM_001127217.3(SMAD9):c.449A>G (p.Tyr150Cys) rs138822893 0.00014
NM_001204.7(BMPR2):c.*6731G>A rs184637642 0.00014
NM_001204.7(BMPR2):c.726C>T (p.Asn242=) rs151044452 0.00014
NM_001753.5(CAV1):c.129C>T (p.Asp43=) rs201261029 0.00014
NM_001753.5(CAV1):c.357C>T (p.Phe119=) rs201302545 0.00014
NM_001384479.1(AGT):c.862C>T rs61762530 0.00013
NM_017827.4(SARS2):c.1404C>A (p.Asn468Lys) rs369183237 0.00013
NM_017827.4(SARS2):c.448G>A (p.Val150Ile) rs143847153 0.00013
NM_017827.4(SARS2):c.136G>A (p.Glu46Lys) rs142446687 0.00012
NM_001127217.3(SMAD9):c.1161C>A (p.Asn387Lys) rs562953157 0.00011
NM_001204.7(BMPR2):c.*7273G>A rs774176078 0.00011
NM_001753.5(CAV1):c.500T>C (p.Phe167Ser) rs201966419 0.00011
NM_002246.3(KCNK3):c.946A>G (p.Lys316Glu) rs142003111 0.00011
NM_000685.5(AGTR1):c.340G>A (p.Ala114Thr) rs140542820 0.00010
NM_001127217.3(SMAD9):c.781+2T>A rs770716081 0.00010
NM_001204.7(BMPR2):c.57G>A (p.Leu19=) rs759723251 0.00010
NM_001384479.1(AGT):c.31A>C rs13306155 0.00010
NM_001384479.1(AGT):c.830-20G>A rs371187328 0.00010
NM_017827.4(SARS2):c.1292G>A (p.Arg431His) rs146193366 0.00010
NC_000001.11:g.230710177T>G rs568010875 0.00009
NM_000685.5(AGTR1):c.697C>A (p.Pro233Thr) rs151206107 0.00009
NM_001127217.3(SMAD9):c.1156A>G (p.Asn386Asp) rs142213379 0.00009
NM_017827.4(SARS2):c.1348-19G>A rs540813245 0.00009
NM_017827.4(SARS2):c.1501A>G (p.Ile501Val) rs776562420 0.00009
NM_017827.4(SARS2):c.988C>T (p.Arg330Trp) rs781367675 0.00009
NM_001204.7(BMPR2):c.*3354G>T rs886055481 0.00008
NM_002246.3(KCNK3):c.486C>T (p.Ile162=) rs540879740 0.00008
NM_000685.5(AGTR1):c.500G>A (p.Arg167Gln) rs200184769 0.00007
NM_017827.4(SARS2):c.758G>A (p.Arg253Gln) rs185053576 0.00007
NC_000001.11:g.230703204A>G rs371051808 0.00006
NM_000685.5(AGTR1):c.941T>G (p.Leu314Arg) rs199541646 0.00006
NM_001753.5(CAV1):c.202T>G (p.Phe68Val) rs752571940 0.00006
NM_001753.5(CAV1):c.45C>G (p.Thr15=) rs926719665 0.00006
NM_017827.4(SARS2):c.1291C>T (p.Arg431Cys) rs752872984 0.00006
NM_017827.4(SARS2):c.540C>T (p.Val180=) rs371250326 0.00006
NC_000001.11:g.230710461C>T rs752658346 0.00005
NM_001127217.3(SMAD9):c.482G>A (p.Arg161His) rs200651392 0.00005
NM_001204.7(BMPR2):c.150A>G (p.Arg50=) rs201759998 0.00005
NM_001204.7(BMPR2):c.1677T>A (p.Thr559=) rs748684688 0.00005
NM_001204.7(BMPR2):c.2526G>T (p.Arg842Ser) rs368819325 0.00005
NM_002246.3(KCNK3):c.826G>A (p.Gly276Ser) rs986931065 0.00005
NM_001127217.3(SMAD9):c.1047C>T (p.Cys349=) rs141357701 0.00004
NM_001204.7(BMPR2):c.*2491T>C rs773528113 0.00004
NM_001204.7(BMPR2):c.1516A>G (p.Met506Val) rs370457339 0.00004
NM_001204.7(BMPR2):c.2228A>G (p.Tyr743Cys) rs148257675 0.00004
NM_001204.7(BMPR2):c.2960C>T (p.Ser987Phe) rs150642992 0.00004
NM_001204.7(BMPR2):c.775C>T (p.Arg259Cys) rs760996563 0.00004
NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr) rs374694591 0.00004
NM_001204.7(BMPR2):c.908G>A (p.Arg303His) rs200948870 0.00004
NM_001384479.1(AGT):c.264C>T (p.Thr88=) rs11557884 0.00004
NM_001753.5(CAV1):c.512G>A (p.Arg171His) rs772468332 0.00004
NM_002246.3(KCNK3):c.1094G>A (p.Gly365Glu) rs748278164 0.00004
NM_002246.3(KCNK3):c.309G>T (p.Thr103=) rs199957242 0.00004
NC_000001.11:g.230710542G>A rs756049025 0.00003
NM_001127217.3(SMAD9):c.971C>T (p.Thr324Met) rs752874017 0.00003
NM_001204.7(BMPR2):c.2353G>A (p.Glu785Lys) rs773135384 0.00003
NM_001204.7(BMPR2):c.2708A>G (p.Asn903Ser) rs373725296 0.00003
NM_002246.3(KCNK3):c.802G>C (p.Gly268Arg) rs774439143 0.00003
NM_002246.3(KCNK3):c.844A>G (p.Thr282Ala) rs779537390 0.00003
NM_017827.4(SARS2):c.795C>T (p.Arg265=) rs372151812 0.00003
NM_000685.5(AGTR1):c.113T>C (p.Ile38Thr) rs751575775 0.00002
NM_001127217.3(SMAD9):c.907G>A (p.Asp303Asn) rs369783485 0.00002
NM_001204.7(BMPR2):c.1586G>A (p.Arg529His) rs752615120 0.00002
NM_001204.7(BMPR2):c.1687G>A (p.Val563Met) rs557172581 0.00002
NM_001204.7(BMPR2):c.818T>G (p.Met273Arg) rs1085307264 0.00002
NM_001384479.1(AGT):c.380C>T (p.Pro127Leu) rs1173238921 0.00002
NM_001384479.1(AGT):c.952G>C (p.Asp318His) rs151194891 0.00002
NM_002246.3(KCNK3):c.1093G>A (p.Gly365Arg) rs768903706 0.00002
NM_002246.3(KCNK3):c.1162A>G (p.Met388Val) rs924076295 0.00002
NM_002246.3(KCNK3):c.202C>T (p.Arg68Cys) rs1025063325 0.00002
NM_002246.3(KCNK3):c.618G>A (p.Val206=) rs536179160 0.00002
NM_017827.4(SARS2):c.230G>T (p.Arg77Leu) rs902727059 0.00002
NM_017827.4(SARS2):c.534+9C>T rs200404554 0.00002
NM_017827.4(SARS2):c.796G>A (p.Gly266Arg) rs767412508 0.00002
NC_000001.11:g.230710455G>A rs201189192 0.00001
NM_000685.5(AGTR1):c.1080A>G (p.Ter360Trp) rs778604981 0.00001
NM_000685.5(AGTR1):c.376C>T (p.Arg126Ter) rs397514687 0.00001
NM_000685.5(AGTR1):c.419G>A (p.Arg140His) rs570056677 0.00001
NM_001127217.3(SMAD9):c.1045T>G (p.Cys349Gly) rs1284819257 0.00001
NM_001127217.3(SMAD9):c.1243C>T (p.Arg415Trp) rs863223772 0.00001
NM_001127217.3(SMAD9):c.679C>A (p.Pro227Thr) rs1429353457 0.00001
NM_001127217.3(SMAD9):c.880C>T (p.Arg294Ter) rs397514716 0.00001
NM_001204.7(BMPR2):c.136A>G (p.Ile46Val) rs759804753 0.00001
NM_001204.7(BMPR2):c.1863G>A (p.Thr621=) rs753528525 0.00001
NM_001204.7(BMPR2):c.276A>C (p.Gln92His) rs140683387 0.00001
NM_001204.7(BMPR2):c.983C>T (p.Ala328Val) rs759940341 0.00001
NM_001384479.1(AGT):c.1060C>T rs778806374 0.00001
NM_001384479.1(AGT):c.76C>T (p.Arg26Trp) rs761670478 0.00001
NM_001384479.1(AGT):c.829+1G>T rs747815674 0.00001
NM_001753.5(CAV1):c.302G>A (p.Arg101His) rs200052661 0.00001
NM_001753.5(CAV1):c.394C>G (p.Pro132Ala) rs748608068 0.00001
NM_002246.3(KCNK3):c.746T>C (p.Met249Thr) rs1015646363 0.00001
NM_002246.3(KCNK3):c.759C>T (p.Asp253=) rs758405997 0.00001
NM_002246.3(KCNK3):c.834C>A (p.Ser278Arg) rs750738078 0.00001
NM_002246.3(KCNK3):c.991C>T (p.Arg331Trp) rs776738377 0.00001
NM_017827.4(SARS2):c.1205G>A (p.Arg402His) rs370842354 0.00001
NM_017827.4(SARS2):c.30G>A (p.Trp10Ter) rs145754412 0.00001
NM_017827.4(SARS2):c.373G>A (p.Asp125Asn) rs771968331 0.00001
NM_017827.4(SARS2):c.446T>C (p.Leu149Pro) rs762785941 0.00001
NM_017827.4(SARS2):c.759+4T>C rs749164566 0.00001
NC_000001.11:g.230706106G>A rs771576624
NM_000685.5(AGTR1):c.-17C>T
NM_000685.5(AGTR1):c.-41T>G
NM_000685.5(AGTR1):c.-47G>A
NM_000685.5(AGTR1):c.101T>C (p.Leu34Ser)
NM_000685.5(AGTR1):c.1031A>T (p.Asn344Ile)
NM_000685.5(AGTR1):c.1066T>G (p.Phe356Val)
NM_000685.5(AGTR1):c.148G>A (p.Val50Met)
NM_000685.5(AGTR1):c.166del (p.Tyr56fs)
NM_000685.5(AGTR1):c.230T>G (p.Phe77Cys)
NM_000685.5(AGTR1):c.251G>A (p.Trp84Ter) rs398122935
NM_000685.5(AGTR1):c.277C>T (p.Arg93Cys)
NM_000685.5(AGTR1):c.278G>A (p.Arg93His)
NM_000685.5(AGTR1):c.311C>T (p.Ala104Val)
NM_000685.5(AGTR1):c.337dup (p.Tyr113fs)
NM_000685.5(AGTR1):c.340del (p.Ala114fs)
NM_000685.5(AGTR1):c.344G>C (p.Ser115Thr)
NM_000685.5(AGTR1):c.359C>T (p.Thr120Met)
NM_000685.5(AGTR1):c.362G>A (p.Cys121Tyr)
NM_000685.5(AGTR1):c.37A>G (p.Arg13Gly)
NM_000685.5(AGTR1):c.400A>G (p.Met134Val)
NM_000685.5(AGTR1):c.410G>A (p.Arg137His)
NM_000685.5(AGTR1):c.497A>G (p.His166Arg)
NM_000685.5(AGTR1):c.502A>G (p.Asn168Asp)
NM_000685.5(AGTR1):c.515T>C (p.Ile172Thr)
NM_000685.5(AGTR1):c.522C>G (p.Asn174Lys)
NM_000685.5(AGTR1):c.553G>A (p.Glu185Lys)
NM_000685.5(AGTR1):c.562A>G (p.Asn188Asp)
NM_000685.5(AGTR1):c.578T>C (p.Ile193Thr)
NM_000685.5(AGTR1):c.599dup (p.Asn200fs) rs1559934279
NM_000685.5(AGTR1):c.68G>A (p.Arg23Lys)
NM_000685.5(AGTR1):c.696_700del (p.Pro233fs) rs2107975487
NM_000685.5(AGTR1):c.706G>C (p.Asp236His)
NM_000685.5(AGTR1):c.736G>C (p.Val246Leu) rs188281474
NM_000685.5(AGTR1):c.766C>A (p.His256Asn)
NM_000685.5(AGTR1):c.779C>T (p.Thr260Ile)
NM_000685.5(AGTR1):c.784C>A (p.Leu262Met)
NM_000685.5(AGTR1):c.814C>T (p.Arg272Cys)
NM_000685.5(AGTR1):c.866G>T (p.Cys289Phe)
NM_000685.5(AGTR1):c.868A>G (p.Ile290Val)
NM_000685.5(AGTR1):c.925T>C (p.Phe309Leu) rs764229950
NM_001127217.3(SMAD9):c.1001A>G (p.Lys334Arg)
NM_001127217.3(SMAD9):c.1004-2A>G
NM_001127217.3(SMAD9):c.1035_1036del (p.Tyr346fs)
NM_001127217.3(SMAD9):c.1128C>G (p.Ile376Met)
NM_001127217.3(SMAD9):c.1150G>A (p.Val384Ile)
NM_001127217.3(SMAD9):c.1171G>A (p.Ala391Thr)
NM_001127217.3(SMAD9):c.1243C>A (p.Arg415=)
NM_001127217.3(SMAD9):c.1270G>A (p.Ala424Thr)
NM_001127217.3(SMAD9):c.1283G>A (p.Arg428His)
NM_001127217.3(SMAD9):c.1321C>T (p.His441Tyr)
NM_001127217.3(SMAD9):c.1344G>A (p.Trp448Ter)
NM_001127217.3(SMAD9):c.137dup (p.Lys47fs)
NM_001127217.3(SMAD9):c.1383C>A (p.Asn461Lys)
NM_001127217.3(SMAD9):c.172G>T (p.Ala58Ser)
NM_001127217.3(SMAD9):c.17C>T (p.Pro6Leu)
NM_001127217.3(SMAD9):c.185C>T (p.Pro62Leu)
NM_001127217.3(SMAD9):c.205G>A (p.Val69Ile)
NM_001127217.3(SMAD9):c.214C>A (p.Pro72Thr)
NM_001127217.3(SMAD9):c.218G>A (p.Arg73His) rs1453268397
NM_001127217.3(SMAD9):c.228C>A (p.Asp76Glu)
NM_001127217.3(SMAD9):c.251G>T (p.Arg84Leu)
NM_001127217.3(SMAD9):c.270_276dup (p.Cys93fs)
NM_001127217.3(SMAD9):c.283G>T (p.Val95Leu)
NM_001127217.3(SMAD9):c.308C>G (p.Ser103Cys)
NM_001127217.3(SMAD9):c.315C>A (p.His105Gln)
NM_001127217.3(SMAD9):c.318_322dup (p.Lys108delinsSerTer)
NM_001127217.3(SMAD9):c.386dup (p.Tyr129Ter) rs2138492919
NM_001127217.3(SMAD9):c.419C>T (p.Pro140Leu)
NM_001127217.3(SMAD9):c.43A>G (p.Ser15Gly)
NM_001127217.3(SMAD9):c.442A>G (p.Ser148Gly)
NM_001127217.3(SMAD9):c.458A>C (p.Gln153Pro)
NM_001127217.3(SMAD9):c.499A>G (p.Ser167Gly)
NM_001127217.3(SMAD9):c.554C>T (p.Pro185Leu)
NM_001127217.3(SMAD9):c.564_567dup (p.Pro190fs) rs765156859
NM_001127217.3(SMAD9):c.602C>T (p.Pro201Leu)
NM_001127217.3(SMAD9):c.606C>T (p.Cys202=)
NM_001127217.3(SMAD9):c.609G>A (p.Thr203=)
NM_001127217.3(SMAD9):c.635G>A (p.Ser212Asn)
NM_001127217.3(SMAD9):c.671-1G>A
NM_001127217.3(SMAD9):c.719A>G (p.Gln240Arg)
NM_001127217.3(SMAD9):c.725G>T (p.Gly242Val)
NM_001127217.3(SMAD9):c.775A>C (p.Asn259His)
NM_001127217.3(SMAD9):c.802G>A (p.Glu268Lys)
NM_001127217.3(SMAD9):c.824C>T (p.Ser275Leu)
NM_001127217.3(SMAD9):c.830C>T (p.Ala277Val)
NM_001127217.3(SMAD9):c.851G>T (p.Arg284Leu)
NM_001127217.3(SMAD9):c.854T>C (p.Val285Ala)
NM_001127217.3(SMAD9):c.862A>T (p.Thr288Ser)
NM_001127217.3(SMAD9):c.868C>T (p.Gln290Ter)
NM_001127217.3(SMAD9):c.87_89del (p.Glu31del)
NM_001127217.3(SMAD9):c.881G>A (p.Arg294Gln)
NM_001127217.3(SMAD9):c.885T>G (p.Ser295Arg)
NM_001127217.3(SMAD9):c.892A>G (p.Ile298Val)
NM_001127217.3(SMAD9):c.919A>G (p.Asn307Asp)
NM_001127217.3(SMAD9):c.922A>G (p.Arg308Gly)
NM_001127217.3(SMAD9):c.950C>G (p.Ser317Cys) rs781563938
NM_001127217.3(SMAD9):c.953A>G (p.Asn318Ser)
NM_001127217.3(SMAD9):c.965A>G (p.Asn322Ser)
NM_001127217.3(SMAD9):c.982A>G (p.Thr328Ala)
NM_001127217.3(SMAD9):c.997G>A (p.Gly333Arg)
NM_001204.7(BMPR2):c.*5535G>A rs546195086
NM_001204.7(BMPR2):c.1024A>C (p.Lys342Gln)
NM_001204.7(BMPR2):c.1037C>A (p.Thr346Asn) rs757926043
NM_001204.7(BMPR2):c.1040G>A (p.Cys347Tyr) rs137852744
NM_001204.7(BMPR2):c.1087C>G (p.Leu363Val) rs781018234
NM_001204.7(BMPR2):c.1089G>T (p.Leu363=)
NM_001204.7(BMPR2):c.1128+4A>C
NM_001204.7(BMPR2):c.1169del (p.Gly390fs)
NM_001204.7(BMPR2):c.1215C>T (p.Asp405=)
NM_001204.7(BMPR2):c.1216A>G (p.Met406Val)
NM_001204.7(BMPR2):c.1219T>G (p.Tyr407Asp)
NM_001204.7(BMPR2):c.1241G>A (p.Trp414Ter) rs1085307317
NM_001204.7(BMPR2):c.1285G>A (p.Val429Ile)
NM_001204.7(BMPR2):c.1398G>A (p.Trp466Ter) rs1060502576
NM_001204.7(BMPR2):c.1438A>T (p.Ile480Phe)
NM_001204.7(BMPR2):c.1459G>C (p.Asp487His)
NM_001204.7(BMPR2):c.1467G>A (p.Glu489=)
NM_001204.7(BMPR2):c.1509A>C (p.Glu503Asp) rs1060502583
NM_001204.7(BMPR2):c.1550C>T (p.Thr517Ile)
NM_001204.7(BMPR2):c.1559C>T (p.Pro520Leu)
NM_001204.7(BMPR2):c.156_157del (p.Ser52_His53insTer) rs1085307169
NM_001204.7(BMPR2):c.1595C>G (p.Ser532Ter)
NM_001204.7(BMPR2):c.1600A>G (p.Asn534Asp)
NM_001204.7(BMPR2):c.1618A>G (p.Ile540Val)
NM_001204.7(BMPR2):c.1655T>C (p.Ile552Thr)
NM_001204.7(BMPR2):c.1657G>A (p.Glu553Lys)
NM_001204.7(BMPR2):c.1667T>G (p.Ile556Ser)
NM_001204.7(BMPR2):c.1684A>G (p.Ile562Val)
NM_001204.7(BMPR2):c.1703C>T (p.Ser568Phe)
NM_001204.7(BMPR2):c.1714A>C (p.Met572Leu)
NM_001204.7(BMPR2):c.172A>G (p.Ile58Val)
NM_001204.7(BMPR2):c.1742A>G (p.Glu581Gly)
NM_001204.7(BMPR2):c.1749C>A (p.Asn583Lys)
NM_001204.7(BMPR2):c.1751G>T (p.Arg584Leu)
NM_001204.7(BMPR2):c.1761T>G (p.Ile587Met)
NM_001204.7(BMPR2):c.1807A>G (p.Thr603Ala)
NM_001204.7(BMPR2):c.1814T>A (p.Val605Asp)
NM_001204.7(BMPR2):c.1816A>T (p.Thr606Ser)
NM_001204.7(BMPR2):c.182C>T (p.Ser61Leu)
NM_001204.7(BMPR2):c.1837A>G (p.Thr613Ala)
NM_001204.7(BMPR2):c.1862C>T (p.Thr621Met)
NM_001204.7(BMPR2):c.1878G>C (p.Met626Ile)
NM_001204.7(BMPR2):c.194C>T (p.Thr65Ile)
NM_001204.7(BMPR2):c.1977AGA[2] (p.Glu661del)
NM_001204.7(BMPR2):c.2033A>G (p.Lys678Arg)
NM_001204.7(BMPR2):c.2046T>A (p.Asp682Glu)
NM_001204.7(BMPR2):c.2066C>G (p.Ser689Cys)
NM_001204.7(BMPR2):c.2111C>G (p.Ser704Cys)
NM_001204.7(BMPR2):c.2164G>A (p.Asp722Asn)
NM_001204.7(BMPR2):c.2199G>C (p.Leu733Phe)
NM_001204.7(BMPR2):c.2266A>G (p.Thr756Ala)
NM_001204.7(BMPR2):c.2308C>T (p.Arg770Trp)
NM_001204.7(BMPR2):c.2319T>G (p.Phe773Leu)
NM_001204.7(BMPR2):c.2362G>A (p.Val788Ile)
NM_001204.7(BMPR2):c.2390C>T (p.Ala797Val)
NM_001204.7(BMPR2):c.2418G>A (p.Met806Ile)
NM_001204.7(BMPR2):c.2441A>G (p.His814Arg)
NM_001204.7(BMPR2):c.2455C>T (p.His819Tyr)
NM_001204.7(BMPR2):c.2569C>T (p.Arg857Trp)
NM_001204.7(BMPR2):c.2579T>C (p.Ile860Thr)
NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter) rs137852748
NM_001204.7(BMPR2):c.2621A>G (p.Glu874Gly)
NM_001204.7(BMPR2):c.2659C>T (p.Leu887Phe)
NM_001204.7(BMPR2):c.2663T>C (p.Val888Ala)
NM_001204.7(BMPR2):c.2678G>A (p.Arg893Gln)
NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter) rs137852741
NM_001204.7(BMPR2):c.2765G>C (p.Ser922Thr)
NM_001204.7(BMPR2):c.2854A>G (p.Ser952Gly)
NM_001204.7(BMPR2):c.2922T>G (p.Arg974=)
NM_001204.7(BMPR2):c.2978C>G (p.Thr993Ser)
NM_001204.7(BMPR2):c.2978C>T (p.Thr993Ile)
NM_001204.7(BMPR2):c.2998G>A (p.Val1000Ile)
NM_001204.7(BMPR2):c.3022G>A (p.Ala1008Thr)
NM_001204.7(BMPR2):c.3077C>T (p.Thr1026Ile)
NM_001204.7(BMPR2):c.3082A>G (p.Met1028Val)
NM_001204.7(BMPR2):c.341G>A (p.Arg114His)
NM_001204.7(BMPR2):c.38G>C (p.Trp13Ser)
NM_001204.7(BMPR2):c.39G>C (p.Trp13Cys)
NM_001204.7(BMPR2):c.419G>T (p.Ser140Ile)
NM_001204.7(BMPR2):c.424C>T (p.Pro142Ser)
NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter) rs869025366
NM_001204.7(BMPR2):c.521T>G (p.Met174Arg)
NM_001204.7(BMPR2):c.529+1G>A rs1553508187
NM_001204.7(BMPR2):c.529+4A>G rs893200666
NM_001204.7(BMPR2):c.530-13C>A
NM_001204.7(BMPR2):c.55C>T (p.Leu19=)
NM_001204.7(BMPR2):c.5C>G (p.Thr2Ser)
NM_001204.7(BMPR2):c.622-8A>T
NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter) rs137852753
NM_001204.7(BMPR2):c.673C>T (p.Arg225Cys) rs1349280349
NM_001204.7(BMPR2):c.67A>G (p.Thr23Ala)
NM_001204.7(BMPR2):c.691G>C (p.Val231Leu)
NM_001204.7(BMPR2):c.776G>A (p.Arg259His)
NM_001204.7(BMPR2):c.803C>G (p.Thr268Ser)
NM_001204.7(BMPR2):c.80C>T (p.Ser27Leu)
NM_001204.7(BMPR2):c.878_879del (p.Leu293fs)
NM_001204.7(BMPR2):c.878_880delinsCT (p.Leu293fs)
NM_001204.7(BMPR2):c.887G>A (p.Ser296Asn)
NM_001204.7(BMPR2):c.900C>G (p.Ser300Arg)
NM_001204.7(BMPR2):c.907C>T (p.Arg303Cys)
NM_001204.7(BMPR2):c.914C>T (p.Ala305Val)
NM_001204.7(BMPR2):c.926C>T (p.Thr309Ile)
NM_001204.7(BMPR2):c.947A>G (p.His316Arg) rs2106008443
NM_001204.7(BMPR2):c.95G>A (p.Arg32Gln)
NM_001204.7(BMPR2):c.961C>T (p.Arg321Ter) rs1060502581
NM_001204.7(BMPR2):c.971A>G (p.His324Arg)
NM_001384479.1(AGT):c.374T>C rs1558288088
NM_001384479.1(AGT):c.906C>A rs776504572
NM_001397.3(ECE1):c.1849+4C>T
NM_001753.5(CAV1):c.172C>T (p.His58Tyr)
NM_001753.5(CAV1):c.194A>G (p.Lys65Arg)
NM_001753.5(CAV1):c.236A>G (p.His79Arg)
NM_001753.5(CAV1):c.247G>A (p.Gly83Ser)
NM_001753.5(CAV1):c.284C>T (p.Thr95Met)
NM_001753.5(CAV1):c.30+3A>G
NM_001753.5(CAV1):c.301C>T (p.Arg101Cys)
NM_001753.5(CAV1):c.31-5T>A
NM_001753.5(CAV1):c.323G>A (p.Gly108Asp)
NM_001753.5(CAV1):c.358G>A (p.Ala120Thr)
NM_001753.5(CAV1):c.413T>C (p.Leu138Pro)
NM_001753.5(CAV1):c.436C>T (p.Arg146Cys)
NM_001753.5(CAV1):c.437G>C (p.Arg146Pro) rs762818040
NM_001753.5(CAV1):c.454G>A (p.Val152Ile)
NM_001753.5(CAV1):c.460A>T (p.Thr154Ser)
NM_001753.5(CAV1):c.461C>T (p.Thr154Ile)
NM_001753.5(CAV1):c.487G>C (p.Val163Leu)
NM_001753.5(CAV1):c.511C>T (p.Arg171Cys)
NM_001753.5(CAV1):c.87C>A (p.Asn29Lys)
NM_001753.5(CAV1):c.96G>A (p.Met32Ile)
NM_002246.3(KCNK3):c.1019T>C (p.Val340Ala)
NM_002246.3(KCNK3):c.1051_1083dup (p.Cys361_Leu362insGlyArgTyrSerAspThrProSerArgArgCys)
NM_002246.3(KCNK3):c.1061G>A (p.Ser354Asn)
NM_002246.3(KCNK3):c.1147A>G (p.Thr383Ala) rs1663475413
NM_002246.3(KCNK3):c.1168C>A (p.Arg390Ser)
NM_002246.3(KCNK3):c.454G>T (p.Ala152Ser)
NM_002246.3(KCNK3):c.502A>G (p.Ile168Val)
NM_002246.3(KCNK3):c.512T>C (p.Leu171Pro)
NM_002246.3(KCNK3):c.536C>T (p.Ser179Phe)
NM_002246.3(KCNK3):c.614A>T (p.Tyr205Phe)
NM_002246.3(KCNK3):c.615C>T (p.Tyr205=)
NM_002246.3(KCNK3):c.690G>A (p.Thr230=)
NM_002246.3(KCNK3):c.756G>C (p.Glu252Asp)
NM_002246.3(KCNK3):c.801C>G (p.Asn267Lys)
NM_002246.3(KCNK3):c.824G>C (p.Gly275Ala)
NM_002246.3(KCNK3):c.827G>A (p.Gly276Asp) rs556393203
NM_002246.3(KCNK3):c.853G>A (p.Ala285Thr) rs768231464
NM_002246.3(KCNK3):c.955G>A (p.Glu319Lys)
NM_002246.3(KCNK3):c.976C>T (p.Pro326Ser) rs775696759
NM_002246.3(KCNK3):c.99C>G (p.Pro33=) rs528661453
NM_017827.4(SARS2):c.1004C>T (p.Thr335Met)
NM_017827.4(SARS2):c.1019G>A (p.Arg340Gln)
NM_017827.4(SARS2):c.1031G>C (p.Arg344Pro)
NM_017827.4(SARS2):c.1084G>T (p.Glu362Ter)
NM_017827.4(SARS2):c.1091G>A (p.Ser364Asn)
NM_017827.4(SARS2):c.1161-11C>T
NM_017827.4(SARS2):c.1238G>A (p.Arg413Gln)
NM_017827.4(SARS2):c.1244G>A (p.Arg415His)
NM_017827.4(SARS2):c.1294C>T (p.Arg432Cys)
NM_017827.4(SARS2):c.1295G>A (p.Arg432His)
NM_017827.4(SARS2):c.1318G>A (p.Glu440Lys)
NM_017827.4(SARS2):c.1387G>T (p.Ala463Ser)
NM_017827.4(SARS2):c.1388C>T (p.Ala463Val)
NM_017827.4(SARS2):c.1400G>A (p.Ser467Asn)
NM_017827.4(SARS2):c.1417G>A (p.Gly473Ser)
NM_017827.4(SARS2):c.1432C>T (p.Pro478Ser)
NM_017827.4(SARS2):c.1439C>T (p.Ala480Val)
NM_017827.4(SARS2):c.1454T>A (p.Leu485His)
NM_017827.4(SARS2):c.1456G>A (p.Gly486Ser)
NM_017827.4(SARS2):c.1468A>T (p.Ile490Phe)
NM_017827.4(SARS2):c.146G>A (p.Arg49His)
NM_017827.4(SARS2):c.1493T>C (p.Leu498Pro)
NM_017827.4(SARS2):c.1537G>A (p.Gly513Ser)
NM_017827.4(SARS2):c.1546G>T (p.Ala516Ser)
NM_017827.4(SARS2):c.154T>C (p.Tyr52His)
NM_017827.4(SARS2):c.15G>A (p.Met5Ile)
NM_017827.4(SARS2):c.166C>G (p.Pro56Ala)
NM_017827.4(SARS2):c.176A>C (p.Asp59Ala)
NM_017827.4(SARS2):c.201A>T (p.Pro67=)
NM_017827.4(SARS2):c.223del (p.Glu75fs)
NM_017827.4(SARS2):c.244C>G (p.Arg82Gly)
NM_017827.4(SARS2):c.279G>A (p.Trp93Ter)
NM_017827.4(SARS2):c.344A>G (p.Glu115Gly)
NM_017827.4(SARS2):c.363+6C>T
NM_017827.4(SARS2):c.415C>T (p.Arg139Trp)
NM_017827.4(SARS2):c.427C>G (p.Arg143Gly)
NM_017827.4(SARS2):c.428G>A (p.Arg143Gln)
NM_017827.4(SARS2):c.454C>A (p.Leu152Met)
NM_017827.4(SARS2):c.455T>A (p.Leu152Gln)
NM_017827.4(SARS2):c.476T>A (p.Leu159His)
NM_017827.4(SARS2):c.485A>G (p.Gln162Arg)
NM_017827.4(SARS2):c.500C>T (p.Ala167Val)
NM_017827.4(SARS2):c.50G>A (p.Gly17Glu)
NM_017827.4(SARS2):c.532G>A (p.Val178Met)
NM_017827.4(SARS2):c.559C>T (p.Arg187Ter)
NM_017827.4(SARS2):c.55C>G (p.Arg19Gly)
NM_017827.4(SARS2):c.565C>T (p.Leu189Phe)
NM_017827.4(SARS2):c.589+1del
NM_017827.4(SARS2):c.613C>T (p.His205Tyr)
NM_017827.4(SARS2):c.649C>A (p.Gln217Lys)
NM_017827.4(SARS2):c.653+2_653+3del
NM_017827.4(SARS2):c.667G>A (p.Val223Met)
NM_017827.4(SARS2):c.679C>A (p.Arg227=)
NM_017827.4(SARS2):c.679C>T (p.Arg227Trp) rs761305168
NM_017827.4(SARS2):c.680G>A (p.Arg227Gln)
NM_017827.4(SARS2):c.695G>A (p.Arg232His)
NM_017827.4(SARS2):c.701C>T (p.Ala234Val)
NM_017827.4(SARS2):c.744C>A (p.Asn248Lys)
NM_017827.4(SARS2):c.755G>A (p.Arg252His)
NM_017827.4(SARS2):c.759+3A>G
NM_017827.4(SARS2):c.793C>T (p.Arg265Cys)
NM_017827.4(SARS2):c.826C>A (p.Pro276Thr)
NM_017827.4(SARS2):c.829A>G (p.Asn277Asp)
NM_017827.4(SARS2):c.837C>A (p.Asn279Lys)
NM_017827.4(SARS2):c.839C>T (p.Pro280Leu)
NM_017827.4(SARS2):c.858C>G (p.Ile286Met)
NM_017827.4(SARS2):c.889G>T (p.Ala297Ser)
NM_017827.4(SARS2):c.916+16G>A
NM_017827.4(SARS2):c.916+1G>A
NM_017827.4(SARS2):c.934A>G (p.Thr312Ala)
NM_017827.4(SARS2):c.937G>A (p.Val313Met)
NM_017827.4(SARS2):c.940G>T (p.Ala314Ser)

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