ClinVar Miner

List of variants in gene CDHR1 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 491
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HGVS dbSNP gnomAD frequency
NM_033100.4(CDHR1):c.*245C>T rs74574460 0.01466
NM_033100.4(CDHR1):c.*2017C>T rs74619906 0.01450
NM_033100.4(CDHR1):c.240C>T (p.Val80=) rs11593005 0.00943
NM_033100.4(CDHR1):c.2041-15G>A rs61867367 0.00830
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_033100.4(CDHR1):c.1868A>G (p.Asn623Ser) rs137876961 0.00404
NM_033100.4(CDHR1):c.*1571C>T rs189528704 0.00355
NM_033100.4(CDHR1):c.*2870T>C rs182930531 0.00198
NM_033100.4(CDHR1):c.*2150A>G rs565352007 0.00195
NM_033100.4(CDHR1):c.938G>A (p.Arg313Lys) rs144058677 0.00194
NM_033100.4(CDHR1):c.*1269G>A rs184429596 0.00191
NM_033100.4(CDHR1):c.*3851C>G rs182752708 0.00189
NM_033100.4(CDHR1):c.1873C>G (p.His625Asp) rs149043166 0.00178
NM_033100.4(CDHR1):c.1071C>T (p.Ser357=) rs146588811 0.00167
NM_033100.4(CDHR1):c.526-7C>G rs190906755 0.00166
NM_033100.4(CDHR1):c.1461G>A (p.Gly487=) rs141787212 0.00145
NM_033100.4(CDHR1):c.118G>A (p.Ala40Thr) rs138182270 0.00139
NM_033100.4(CDHR1):c.1553+6T>C rs199567321 0.00139
NM_033100.4(CDHR1):c.*167A>T rs41309994 0.00135
NM_033100.4(CDHR1):c.*2019A>G rs546338766 0.00121
NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln) rs140621272 0.00121
NM_033100.4(CDHR1):c.408C>T (p.Ile136=) rs148125234 0.00121
NM_033100.4(CDHR1):c.556C>T (p.His186Tyr) rs147420731 0.00120
NM_033100.4(CDHR1):c.547G>A (p.Val183Met) rs142109115 0.00107
NM_033100.4(CDHR1):c.2229G>A (p.Arg743=) rs150969538 0.00106
NM_033100.4(CDHR1):c.*1770G>C rs537201585 0.00103
NM_033100.4(CDHR1):c.*1467T>A rs4933979 0.00090
NM_033100.4(CDHR1):c.*3049T>A rs144684663 0.00082
NM_033100.4(CDHR1):c.*935C>T rs560033657 0.00070
NM_033100.4(CDHR1):c.*1534A>G rs886047345 0.00068
NM_033100.4(CDHR1):c.*2357G>A rs140766042 0.00064
NM_033100.4(CDHR1):c.1849G>A (p.Ala617Thr) rs141250715 0.00056
NM_033100.4(CDHR1):c.*2493C>T rs113121685 0.00054
NM_033100.4(CDHR1):c.2176C>T (p.Arg726Cys) rs141706561 0.00051
NM_033100.4(CDHR1):c.700G>A (p.Val234Ile) rs148356887 0.00046
NM_033100.4(CDHR1):c.1320+4G>C rs370677921 0.00044
NM_033100.4(CDHR1):c.2367G>A (p.Pro789=) rs150097621 0.00044
NM_033100.4(CDHR1):c.1470C>T (p.Ser490=) rs150577739 0.00038
NM_033100.4(CDHR1):c.*3086C>A rs534785098 0.00034
NM_033100.4(CDHR1):c.*838G>T rs886047336 0.00032
NM_033100.4(CDHR1):c.*511G>A rs377102711 0.00025
NM_033100.4(CDHR1):c.1474G>C (p.Val492Leu) rs141797175 0.00025
NM_033100.4(CDHR1):c.689C>T (p.Thr230Ile) rs141173656 0.00024
NM_033100.4(CDHR1):c.2001C>T (p.Ser667=) rs139302633 0.00023
NM_033100.4(CDHR1):c.415C>G (p.Pro139Ala) rs192282380 0.00020
NM_033100.4(CDHR1):c.*1174G>A rs886047341 0.00019
NM_033100.4(CDHR1):c.2377G>A (p.Ala793Thr) rs548995580 0.00019
NM_033100.4(CDHR1):c.*583G>A rs886047333 0.00018
NM_033100.4(CDHR1):c.44G>T (p.Arg15Leu) rs74903725 0.00017
NM_033100.4(CDHR1):c.686C>T (p.Thr229Ile) rs146547564 0.00017
NM_033100.4(CDHR1):c.1589C>G (p.Thr530Ser) rs140097244 0.00016
NM_033100.4(CDHR1):c.1187A>G (p.Asn396Ser) rs145353541 0.00014
NM_033100.4(CDHR1):c.1445C>T (p.Pro482Leu) rs375576650 0.00014
NM_033100.4(CDHR1):c.1751C>T (p.Thr584Met) rs754321329 0.00014
NM_033100.4(CDHR1):c.1594C>G (p.Pro532Ala) rs143662988 0.00013
NM_033100.4(CDHR1):c.395C>T (p.Ala132Val) rs137998775 0.00012
NM_033100.4(CDHR1):c.*390C>T rs139848391 0.00011
NM_033100.4(CDHR1):c.1453G>A (p.Ala485Thr) rs532268197 0.00011
NM_033100.4(CDHR1):c.640-14C>T rs376451005 0.00011
NM_033100.4(CDHR1):c.*1518G>C rs933006669 0.00010
NM_033100.4(CDHR1):c.1072G>A (p.Gly358Arg) rs140077265 0.00010
NM_033100.4(CDHR1):c.1328C>T (p.Ala443Val) rs147726523 0.00010
NM_033100.4(CDHR1):c.1432G>A (p.Val478Ile) rs756095042 0.00009
NM_033100.4(CDHR1):c.1982G>A (p.Arg661Gln) rs150840551 0.00009
NM_033100.4(CDHR1):c.526-14C>A rs745955360 0.00009
NM_033100.4(CDHR1):c.694G>C (p.Val232Leu) rs144979632 0.00009
NM_033100.4(CDHR1):c.720G>C (p.Gln240His) rs149002238 0.00009
NM_033100.4(CDHR1):c.784-3G>A rs201384219 0.00009
NM_033100.4(CDHR1):c.1206C>T (p.Pro402=) rs149181127 0.00008
NM_033100.4(CDHR1):c.1211G>A (p.Gly404Asp) rs752039450 0.00008
NM_033100.4(CDHR1):c.2027T>A (p.Ile676Asn) rs186486854 0.00008
NM_033100.4(CDHR1):c.554G>A (p.Arg185His) rs201731584 0.00008
NM_033100.4(CDHR1):c.1554-3C>A rs377416569 0.00007
NM_033100.4(CDHR1):c.160G>A (p.Val54Ile) rs138967568 0.00007
NM_033100.4(CDHR1):c.2060T>C (p.Met687Thr) rs371108611 0.00007
NM_033100.4(CDHR1):c.*1202G>A rs1039260787 0.00006
NM_033100.4(CDHR1):c.*1252C>T rs192276321 0.00006
NM_033100.4(CDHR1):c.*269C>T rs375246992 0.00006
NM_033100.4(CDHR1):c.*3498G>A rs557462608 0.00006
NM_033100.4(CDHR1):c.*914C>A rs886047337 0.00006
NM_033100.4(CDHR1):c.1220G>A (p.Arg407Gln) rs201004571 0.00006
NM_033100.4(CDHR1):c.1471G>A (p.Val491Met) rs138638103 0.00006
NM_033100.4(CDHR1):c.1516G>A (p.Glu506Lys) rs547812313 0.00006
NM_033100.4(CDHR1):c.1843G>A (p.Glu615Lys) rs144856473 0.00006
NM_033100.4(CDHR1):c.1854C>T (p.Asn618=) rs373373894 0.00006
NM_033100.4(CDHR1):c.595G>A (p.Asp199Asn) rs199671784 0.00006
NM_033100.4(CDHR1):c.*1356A>G rs886047343 0.00005
NM_033100.4(CDHR1):c.*1737C>T rs181800100 0.00005
NM_033100.4(CDHR1):c.*1819C>T rs750723702 0.00005
NM_033100.4(CDHR1):c.1050G>A (p.Pro350=) rs199721776 0.00005
NM_033100.4(CDHR1):c.29C>T (p.Ala10Val) rs750454492 0.00005
NM_033100.4(CDHR1):c.698C>T (p.Thr233Met) rs373314306 0.00005
NM_033100.4(CDHR1):c.785G>A (p.Gly262Asp) rs748905962 0.00005
NM_033100.4(CDHR1):c.*2577G>C rs886047349 0.00004
NM_033100.4(CDHR1):c.*2979C>T rs1212903900 0.00004
NM_033100.4(CDHR1):c.1049C>T (p.Pro350Leu) rs778266429 0.00004
NM_033100.4(CDHR1):c.1417G>A (p.Asp473Asn) rs202085286 0.00004
NM_033100.4(CDHR1):c.1651G>C (p.Glu551Gln) rs751760668 0.00004
NM_033100.4(CDHR1):c.1778T>C (p.Ile593Thr) rs151127624 0.00004
NM_033100.4(CDHR1):c.1848C>T (p.Pro616=) rs147920893 0.00004
NM_033100.4(CDHR1):c.1867A>G (p.Asn623Asp) rs754717589 0.00004
NM_033100.4(CDHR1):c.238G>A (p.Val80Ile) rs45567134 0.00004
NM_033100.4(CDHR1):c.412G>A (p.Glu138Lys) rs370668772 0.00004
NM_033100.4(CDHR1):c.572G>A (p.Arg191His) rs142631189 0.00004
NM_033100.4(CDHR1):c.601G>A (p.Glu201Lys) rs200646223 0.00004
NM_033100.4(CDHR1):c.783+3G>A rs759265185 0.00004
NM_033100.4(CDHR1):c.931C>A (p.Leu311Ile) rs149527368 0.00004
NM_033100.4(CDHR1):c.*1082A>C rs886047340 0.00003
NM_033100.4(CDHR1):c.*2428G>A rs886047347 0.00003
NM_033100.4(CDHR1):c.*2560C>T rs886047348 0.00003
NM_033100.4(CDHR1):c.1009G>A (p.Val337Ile) rs764190821 0.00003
NM_033100.4(CDHR1):c.1464C>T (p.Gly488=) rs193142630 0.00003
NM_033100.4(CDHR1):c.1675G>A (p.Val559Ile) rs778340853 0.00003
NM_033100.4(CDHR1):c.1A>G (p.Met1Val) rs794726954 0.00003
NM_033100.4(CDHR1):c.2042C>A (p.Thr681Asn) rs149996002 0.00003
NM_033100.4(CDHR1):c.2470C>T (p.Gln824Ter) rs762298688 0.00003
NM_033100.4(CDHR1):c.436G>A (p.Glu146Lys) rs184437421 0.00003
NM_033100.4(CDHR1):c.55+6T>C rs925189073 0.00003
NM_033100.4(CDHR1):c.628G>A (p.Val210Met) rs774747506 0.00003
NM_033100.4(CDHR1):c.677T>C (p.Phe226Ser) rs777940870 0.00003
NM_033100.4(CDHR1):c.782C>T (p.Pro261Leu) rs142722981 0.00003
NM_033100.4(CDHR1):c.784-4C>T rs768106524 0.00003
NM_033100.4(CDHR1):c.824G>A (p.Arg275Gln) rs201505995 0.00003
NM_033100.4(CDHR1):c.879T>A (p.Phe293Leu) rs1312398950 0.00003
NM_033100.4(CDHR1):c.983C>T (p.Ala328Val) rs749657135 0.00003
NM_033100.4(CDHR1):c.1162G>A (p.Asp388Asn) rs760927412 0.00002
NM_033100.4(CDHR1):c.1168G>A (p.Gly390Arg) rs776765032 0.00002
NM_033100.4(CDHR1):c.152-9T>C rs754726772 0.00002
NM_033100.4(CDHR1):c.1574C>T (p.Thr525Ile) rs754996707 0.00002
NM_033100.4(CDHR1):c.1746G>T (p.Lys582Asn) rs764520994 0.00002
NM_033100.4(CDHR1):c.1853A>G (p.Asn618Ser) rs776826024 0.00002
NM_033100.4(CDHR1):c.1948T>C (p.Cys650Arg) rs555641256 0.00002
NM_033100.4(CDHR1):c.2189C>T (p.Ser730Phe) rs779187975 0.00002
NM_033100.4(CDHR1):c.2228G>A (p.Arg743Gln) rs767546090 0.00002
NM_033100.4(CDHR1):c.2290G>T (p.Ala764Ser) rs367757135 0.00002
NM_033100.4(CDHR1):c.2324A>G (p.Asn775Ser) rs201897612 0.00002
NM_033100.4(CDHR1):c.2458C>T (p.Pro820Ser) rs769541620 0.00002
NM_033100.4(CDHR1):c.725T>C (p.Met242Thr) rs143784381 0.00002
NM_033100.4(CDHR1):c.769G>A (p.Glu257Lys) rs1473752492 0.00002
NM_033100.4(CDHR1):c.808G>A (p.Ala270Thr) rs773335171 0.00002
NM_033100.4(CDHR1):c.833C>T (p.Pro278Leu) rs543254581 0.00002
NM_033100.4(CDHR1):c.887A>C (p.Asn296Thr) rs764219118 0.00002
NM_033100.4(CDHR1):c.*1008A>G rs549785373 0.00001
NM_033100.4(CDHR1):c.*1260C>T rs886047342 0.00001
NM_033100.4(CDHR1):c.*1426G>A rs1228793503 0.00001
NM_033100.4(CDHR1):c.*2351G>A rs570983583 0.00001
NM_033100.4(CDHR1):c.*3042A>G rs1244408884 0.00001
NM_033100.4(CDHR1):c.*3772G>A rs1167359313 0.00001
NM_033100.4(CDHR1):c.*631C>G rs886047335 0.00001
NM_033100.4(CDHR1):c.*937C>T rs886047339 0.00001
NM_033100.4(CDHR1):c.1058T>C (p.Phe353Ser) rs771316043 0.00001
NM_033100.4(CDHR1):c.1114C>T (p.Pro372Ser) rs143621397 0.00001
NM_033100.4(CDHR1):c.1136G>A (p.Gly379Asp) rs776332250 0.00001
NM_033100.4(CDHR1):c.1150G>A (p.Val384Ile) rs150475580 0.00001
NM_033100.4(CDHR1):c.1319A>C (p.Lys440Thr) rs771794494 0.00001
NM_033100.4(CDHR1):c.1320+11C>T rs201940855 0.00001
NM_033100.4(CDHR1):c.1373T>A (p.Val458Asp) rs760942217 0.00001
NM_033100.4(CDHR1):c.13C>T (p.Arg5Trp) rs766698407 0.00001
NM_033100.4(CDHR1):c.1401C>A (p.Asp467Glu) rs758392057 0.00001
NM_033100.4(CDHR1):c.1486-3C>T rs1384765131 0.00001
NM_033100.4(CDHR1):c.1612G>A (p.Ala538Thr) rs778184655 0.00001
NM_033100.4(CDHR1):c.1647G>C (p.Lys549Asn) rs375329781 0.00001
NM_033100.4(CDHR1):c.1705G>A (p.Val569Ile) rs148495852 0.00001
NM_033100.4(CDHR1):c.1768C>T (p.Pro590Ser) rs866406140 0.00001
NM_033100.4(CDHR1):c.1786A>G (p.Ile596Val) rs758767344 0.00001
NM_033100.4(CDHR1):c.179C>A (p.Thr60Lys) rs772896189 0.00001
NM_033100.4(CDHR1):c.184C>T (p.Pro62Ser) rs766492451 0.00001
NM_033100.4(CDHR1):c.1882G>A (p.Glu628Lys) rs896814669 0.00001
NM_033100.4(CDHR1):c.1904T>C (p.Ile635Thr) rs201296984 0.00001
NM_033100.4(CDHR1):c.2105T>A (p.Val702Glu) rs778906376 0.00001
NM_033100.4(CDHR1):c.2120G>C (p.Gly707Ala) rs1395358747 0.00001
NM_033100.4(CDHR1):c.2149G>A (p.Val717Ile) rs1202466043 0.00001
NM_033100.4(CDHR1):c.2155A>T (p.Ile719Phe) rs772664931 0.00001
NM_033100.4(CDHR1):c.2161A>G (p.Thr721Ala) rs886047328 0.00001
NM_033100.4(CDHR1):c.2203C>A (p.Pro735Thr) rs780447091 0.00001
NM_033100.4(CDHR1):c.2207T>C (p.Met736Thr) rs747473311 0.00001
NM_033100.4(CDHR1):c.220G>A (p.Asp74Asn) rs1320858210 0.00001
NM_033100.4(CDHR1):c.2215G>A (p.Val739Met) rs533151905 0.00001
NM_033100.4(CDHR1):c.2218C>T (p.Leu740Phe) rs762396052 0.00001
NM_033100.4(CDHR1):c.227G>A (p.Ser76Asn) rs771221565 0.00001
NM_033100.4(CDHR1):c.2301C>A (p.Phe767Leu) rs1842391040 0.00001
NM_033100.4(CDHR1):c.2318C>T (p.Pro773Leu) rs371582488 0.00001
NM_033100.4(CDHR1):c.2431G>A (p.Val811Met) rs764500651 0.00001
NM_033100.4(CDHR1):c.2462A>G (p.Gln821Arg) rs375803729 0.00001
NM_033100.4(CDHR1):c.2476C>T (p.Pro826Ser) rs1165238929 0.00001
NM_033100.4(CDHR1):c.2480C>G (p.Pro827Arg) rs779506713 0.00001
NM_033100.4(CDHR1):c.2549A>T (p.Lys850Met) rs1362213999 0.00001
NM_033100.4(CDHR1):c.311T>C (p.Ile104Thr) rs1235318623 0.00001
NM_033100.4(CDHR1):c.316G>A (p.Ala106Thr) rs1314653233 0.00001
NM_033100.4(CDHR1):c.351G>A (p.Val117=) rs761637451 0.00001
NM_033100.4(CDHR1):c.353C>A (p.Ala118Asp) rs1050499319 0.00001
NM_033100.4(CDHR1):c.355G>A (p.Glu119Lys) rs531420059 0.00001
NM_033100.4(CDHR1):c.364G>A (p.Val122Met) rs886047324 0.00001
NM_033100.4(CDHR1):c.374T>C (p.Val125Ala) rs1254218300 0.00001
NM_033100.4(CDHR1):c.382G>T (p.Ala128Ser) rs1377926249 0.00001
NM_033100.4(CDHR1):c.386A>G (p.Asn129Ser) rs1424495418 0.00001
NM_033100.4(CDHR1):c.406A>C (p.Ile136Leu) rs1455480884 0.00001
NM_033100.4(CDHR1):c.430G>A (p.Val144Ile) rs1228647950 0.00001
NM_033100.4(CDHR1):c.439-17G>A rs771510913 0.00001
NM_033100.4(CDHR1):c.542T>C (p.Phe181Ser) rs184241207 0.00001
NM_033100.4(CDHR1):c.55+5G>A rs777630035 0.00001
NM_033100.4(CDHR1):c.551A>G (p.Asp184Gly) rs1352579543 0.00001
NM_033100.4(CDHR1):c.56-3C>T rs1243550633 0.00001
NM_033100.4(CDHR1):c.623T>A (p.Ile208Asn) rs763409556 0.00001
NM_033100.4(CDHR1):c.680C>T (p.Ser227Leu) rs1158356829 0.00001
NM_033100.4(CDHR1):c.764T>A (p.Val255Glu) rs747388076 0.00001
NM_033100.4(CDHR1):c.773A>G (p.Asp258Gly) rs138670791 0.00001
NM_033100.4(CDHR1):c.818G>A (p.Gly273Glu) rs372612164 0.00001
NM_033100.4(CDHR1):c.862+4A>C rs1352559639 0.00001
NM_033100.4(CDHR1):c.869A>G (p.Asp290Gly) rs574920135 0.00001
NM_033100.4(CDHR1):c.875C>A (p.Ala292Asp) rs762636041 0.00001
NM_033100.4(CDHR1):c.886A>G (p.Asn296Asp) rs562607967 0.00001
NM_033100.4(CDHR1):c.963+6C>A rs1287033239 0.00001
NM_033100.4(CDHR1):c.964-10C>T rs886047327 0.00001
NM_033100.4(CDHR1):c.998C>T (p.Ala333Val) rs372832377 0.00001
NC_000010.10:g.(?_85960337)_(85974377_?)dup
NM_001171971.3(CDHR1):c.2210T>C (p.Val737Ala)
NM_033100.4(CDHR1):c.*1055C>A rs117975094
NM_033100.4(CDHR1):c.*1055C>T rs117975094
NM_033100.4(CDHR1):c.*1487C>A rs768873138
NM_033100.4(CDHR1):c.*1914C>G rs553379136
NM_033100.4(CDHR1):c.*1915C>A rs41291362
NM_033100.4(CDHR1):c.*2296G>C rs886047346
NM_033100.4(CDHR1):c.*242T>G rs886047331
NM_033100.4(CDHR1):c.*2704_*2715delinsATTA rs886047350
NM_033100.4(CDHR1):c.*305C>G rs41291360
NM_033100.4(CDHR1):c.*335dup rs886047332
NM_033100.4(CDHR1):c.*403G>C rs1842405190
NM_033100.4(CDHR1):c.*434G>A rs1842405585
NM_033100.4(CDHR1):c.*599_*602del rs752991304
NM_033100.4(CDHR1):c.*785G>A rs1842410930
NM_033100.4(CDHR1):c.*878C>T rs758809572
NM_033100.4(CDHR1):c.*923G>C rs1842412863
NM_033100.4(CDHR1):c.*927T>C rs886047338
NM_033100.4(CDHR1):c.1016T>C (p.Val339Ala)
NM_033100.4(CDHR1):c.1021A>G (p.Ile341Val)
NM_033100.4(CDHR1):c.1036C>T (p.Leu346Phe)
NM_033100.4(CDHR1):c.1041C>A (p.Asn347Lys)
NM_033100.4(CDHR1):c.1041C>G (p.Asn347Lys) rs369220747
NM_033100.4(CDHR1):c.1045C>A (p.His349Asn) rs756121154
NM_033100.4(CDHR1):c.1048C>T (p.Pro350Ser) rs1842263819
NM_033100.4(CDHR1):c.1058T>G (p.Phe353Cys) rs771316043
NM_033100.4(CDHR1):c.1068G>C (p.Glu356Asp)
NM_033100.4(CDHR1):c.106A>G (p.Asn36Asp)
NM_033100.4(CDHR1):c.1070G>A (p.Ser357Asn)
NM_033100.4(CDHR1):c.1115C>A (p.Pro372His)
NM_033100.4(CDHR1):c.1118A>C (p.Gln373Pro) rs2132820771
NM_033100.4(CDHR1):c.1123G>C (p.Glu375Gln)
NM_033100.4(CDHR1):c.1132C>T (p.Arg378Trp) rs146783539
NM_033100.4(CDHR1):c.1143G>C (p.Lys381Asn) rs2132820907
NM_033100.4(CDHR1):c.1178C>G (p.Ala393Gly)
NM_033100.4(CDHR1):c.1187A>C (p.Asn396Thr) rs145353541
NM_033100.4(CDHR1):c.1202G>C (p.Gly401Ala)
NM_033100.4(CDHR1):c.1205C>A (p.Pro402His) rs1842277221
NM_033100.4(CDHR1):c.1210G>A (p.Gly404Ser)
NM_033100.4(CDHR1):c.1259C>T (p.Thr420Ile)
NM_033100.4(CDHR1):c.1269G>A (p.Val423=) rs967559308
NM_033100.4(CDHR1):c.1291T>C (p.Phe431Leu)
NM_033100.4(CDHR1):c.1320+4G>A
NM_033100.4(CDHR1):c.1321-14T>A rs1564663852
NM_033100.4(CDHR1):c.1321-9C>A rs1037918838
NM_033100.4(CDHR1):c.1321-9C>G rs1037918838
NM_033100.4(CDHR1):c.1328C>A (p.Ala443Asp) rs147726523
NM_033100.4(CDHR1):c.1330G>A (p.Val444Ile) rs1432855847
NM_033100.4(CDHR1):c.1335A>C (p.Glu445Asp)
NM_033100.4(CDHR1):c.1343C>T (p.Thr448Ile) rs906183147
NM_033100.4(CDHR1):c.1344C>T (p.Thr448=) rs542195636
NM_033100.4(CDHR1):c.1354T>G (p.Phe452Val) rs112631930
NM_033100.4(CDHR1):c.1357A>G (p.Ser453Gly) rs886044615
NM_033100.4(CDHR1):c.1367C>A (p.Ala456Glu) rs142742994
NM_033100.4(CDHR1):c.1378A>G (p.Ile460Val)
NM_033100.4(CDHR1):c.138G>A (p.Glu46=) rs886047322
NM_033100.4(CDHR1):c.1397A>G (p.Asn466Ser)
NM_033100.4(CDHR1):c.139_141del (p.Asp47del)
NM_033100.4(CDHR1):c.1400A>C (p.Asp467Ala) rs146934914
NM_033100.4(CDHR1):c.1400A>T (p.Asp467Val)
NM_033100.4(CDHR1):c.1408C>T (p.Pro470Ser)
NM_033100.4(CDHR1):c.140A>G (p.Asp47Gly)
NM_033100.4(CDHR1):c.1444C>A (p.Pro482Thr)
NM_033100.4(CDHR1):c.1447G>C (p.Glu483Gln)
NM_033100.4(CDHR1):c.1462G>A (p.Gly488Ser)
NM_033100.4(CDHR1):c.1463G>A (p.Gly488Asp) rs1842323988
NM_033100.4(CDHR1):c.146C>T (p.Pro49Leu)
NM_033100.4(CDHR1):c.1508C>T (p.Pro503Leu) rs2132828994
NM_033100.4(CDHR1):c.151+5G>A
NM_033100.4(CDHR1):c.151+6T>C rs1842015989
NM_033100.4(CDHR1):c.1513G>A (p.Gly505Ser) rs2132829051
NM_033100.4(CDHR1):c.152-12_152-11del rs767478332
NM_033100.4(CDHR1):c.1534T>C (p.Tyr512His) rs1842334855
NM_033100.4(CDHR1):c.1535A>G (p.Tyr512Cys) rs200497503
NM_033100.4(CDHR1):c.1553T>G (p.Leu518Arg)
NM_033100.4(CDHR1):c.155C>G (p.Ser52Cys)
NM_033100.4(CDHR1):c.155C>T (p.Ser52Phe) rs369974970
NM_033100.4(CDHR1):c.1564C>T (p.His522Tyr)
NM_033100.4(CDHR1):c.1582A>G (p.Ile528Val)
NM_033100.4(CDHR1):c.159C>A (p.His53Gln) rs12781048
NM_033100.4(CDHR1):c.159C>T (p.His53=) rs12781048
NM_033100.4(CDHR1):c.1631A>C (p.Tyr544Ser)
NM_033100.4(CDHR1):c.1636T>A (p.Phe546Ile) rs370493089
NM_033100.4(CDHR1):c.1661A>G (p.Glu554Gly) rs868012473
NM_033100.4(CDHR1):c.166A>T (p.Thr56Ser) rs575371364
NM_033100.4(CDHR1):c.1679_1681dup (p.Ala560dup) rs1564664845
NM_033100.4(CDHR1):c.167C>A (p.Thr56Asn) rs1326642982
NM_033100.4(CDHR1):c.1681G>A (p.Glu561Lys)
NM_033100.4(CDHR1):c.1700T>C (p.Leu567Pro) rs1064797147
NM_033100.4(CDHR1):c.1706T>A (p.Val569Asp) rs2132831298
NM_033100.4(CDHR1):c.1721C>T (p.Pro574Leu)
NM_033100.4(CDHR1):c.1730G>A (p.Gly577Glu) rs761537924
NM_033100.4(CDHR1):c.173A>G (p.Asn58Ser) rs1842032065
NM_033100.4(CDHR1):c.1746G>C (p.Lys582Asn) rs764520994
NM_033100.4(CDHR1):c.1747A>G (p.Lys583Glu)
NM_033100.4(CDHR1):c.1753A>G (p.Met585Val)
NM_033100.4(CDHR1):c.1760T>A (p.Leu587Gln) rs2132831645
NM_033100.4(CDHR1):c.1766C>T (p.Thr589Ile)
NM_033100.4(CDHR1):c.1787T>C (p.Ile596Thr)
NM_033100.4(CDHR1):c.1791C>A (p.Asp597Glu)
NM_033100.4(CDHR1):c.1803G>C (p.Glu601Asp)
NM_033100.4(CDHR1):c.1819G>C (p.Val607Leu) rs1842365592
NM_033100.4(CDHR1):c.181G>C (p.Asp61His) rs1235603542
NM_033100.4(CDHR1):c.1823A>G (p.Asp608Gly) rs749093293
NM_033100.4(CDHR1):c.1823A>T (p.Asp608Val) rs749093293
NM_033100.4(CDHR1):c.1825T>C (p.Tyr609His) rs1842365798
NM_033100.4(CDHR1):c.1855G>A (p.Val619Met) rs115388824
NM_033100.4(CDHR1):c.1861G>A (p.Asp621Asn)
NM_033100.4(CDHR1):c.1865T>C (p.Ile622Thr) rs751955295
NM_033100.4(CDHR1):c.1877C>A (p.Thr626Lys) rs143024855
NM_033100.4(CDHR1):c.1877C>T (p.Thr626Met) rs143024855
NM_033100.4(CDHR1):c.1882G>C (p.Glu628Gln) rs896814669
NM_033100.4(CDHR1):c.1883A>G (p.Glu628Gly) rs1842368184
NM_033100.4(CDHR1):c.1885A>G (p.Ile629Val) rs2132834082
NM_033100.4(CDHR1):c.1886T>A (p.Ile629Asn)
NM_033100.4(CDHR1):c.1894A>G (p.Lys632Glu) rs866756953
NM_033100.4(CDHR1):c.1907G>T (p.Arg636Leu) rs141835573
NM_033100.4(CDHR1):c.1911C>T (p.Ser637=) rs1842369044
NM_033100.4(CDHR1):c.1915_1923del (p.Asp639_Leu641del) rs771786130
NM_033100.4(CDHR1):c.1919C>T (p.Ala640Val)
NM_033100.4(CDHR1):c.1963G>C (p.Glu655Gln) rs767718465
NM_033100.4(CDHR1):c.1966G>A (p.Val656Met) rs142045222
NM_033100.4(CDHR1):c.1972G>T (p.Ala658Ser) rs753323082
NM_033100.4(CDHR1):c.1978G>A (p.Asp660Asn) rs1085307801
NM_033100.4(CDHR1):c.1981C>T (p.Arg661Trp) rs745676496
NM_033100.4(CDHR1):c.1982G>C (p.Arg661Pro) rs150840551
NM_033100.4(CDHR1):c.2002A>G (p.Thr668Ala)
NM_033100.4(CDHR1):c.2041-6T>C rs1242252406
NM_033100.4(CDHR1):c.2044C>T (p.Leu682Phe)
NM_033100.4(CDHR1):c.2051G>C (p.Arg684Pro) rs144225118
NM_033100.4(CDHR1):c.2051_2056del (p.Arg684_Ser685del) rs760555697
NM_033100.4(CDHR1):c.208C>T (p.His70Tyr) rs2132787934
NM_033100.4(CDHR1):c.2091C>A (p.Asn697Lys)
NM_033100.4(CDHR1):c.2093C>T (p.Pro698Leu) rs1424565711
NM_033100.4(CDHR1):c.2095A>C (p.Met699Leu) rs1189850562
NM_033100.4(CDHR1):c.2098_2127dup (p.Met709_Ala710insLysAlaValGlyValLeuAlaGlyThrMet)
NM_033100.4(CDHR1):c.2101del (p.Ala701fs) rs2132836714
NM_033100.4(CDHR1):c.2102C>T (p.Ala701Val) rs1589309251
NM_033100.4(CDHR1):c.2119G>A (p.Gly707Ser)
NM_033100.4(CDHR1):c.2119G>C (p.Gly707Arg)
NM_033100.4(CDHR1):c.2119_2122del (p.Gly707fs) rs1842386251
NM_033100.4(CDHR1):c.2156T>C (p.Ile719Thr)
NM_033100.4(CDHR1):c.2164G>A (p.Ala722Thr) rs762458527
NM_033100.4(CDHR1):c.2173T>C (p.Trp725Arg) rs751497482
NM_033100.4(CDHR1):c.2176C>A (p.Arg726Ser) rs141706561
NM_033100.4(CDHR1):c.2181C>G (p.Asn727Lys) rs1842387770
NM_033100.4(CDHR1):c.2183A>G (p.Lys728Arg)
NM_033100.4(CDHR1):c.2184G>C (p.Lys728Asn) rs886047329
NM_033100.4(CDHR1):c.2185A>G (p.Lys729Glu)
NM_033100.4(CDHR1):c.2190dup (p.Asn731Ter)
NM_033100.4(CDHR1):c.2196G>C (p.Lys732Asn)
NM_033100.4(CDHR1):c.2196G>T (p.Lys732Asn)
NM_033100.4(CDHR1):c.2197G>T (p.Val733Phe) rs1589309412
NM_033100.4(CDHR1):c.2210G>A (p.Arg737Gln) rs549060738
NM_033100.4(CDHR1):c.2222G>A (p.Arg741His)
NM_033100.4(CDHR1):c.2243C>G (p.Pro748Arg) rs2132837298
NM_033100.4(CDHR1):c.2254C>T (p.Arg752Cys) rs1842389982
NM_033100.4(CDHR1):c.2258T>A (p.Ile753Asn) rs755548090
NM_033100.4(CDHR1):c.2258T>C (p.Ile753Thr) rs755548090
NM_033100.4(CDHR1):c.2277G>C (p.Lys759Asn) rs140766526
NM_033100.4(CDHR1):c.2278A>G (p.Ser760Gly) rs2132837431
NM_033100.4(CDHR1):c.2292T>C (p.Ala764=) rs886047330
NM_033100.4(CDHR1):c.232A>G (p.Arg78Gly) rs2132788029
NM_033100.4(CDHR1):c.2336ACA[2] (p.Asn781del) rs770949432
NM_033100.4(CDHR1):c.236G>A (p.Ser79Asn)
NM_033100.4(CDHR1):c.2374C>G (p.Pro792Ala) rs1842392752
NM_033100.4(CDHR1):c.2375C>T (p.Pro792Leu)
NM_033100.4(CDHR1):c.237C>A (p.Ser79Arg)
NM_033100.4(CDHR1):c.2410_2485del (p.Thr804fs) rs1564666557
NM_033100.4(CDHR1):c.2416G>T (p.Ala806Ser)
NM_033100.4(CDHR1):c.2439_2440delinsCC (p.Val814Leu)
NM_033100.4(CDHR1):c.2441T>C (p.Val814Ala) rs2132838012
NM_033100.4(CDHR1):c.2447del (p.Gly816fs) rs2132838030
NM_033100.4(CDHR1):c.2452C>T (p.Leu818Phe) rs1842395439
NM_033100.4(CDHR1):c.2453T>A (p.Leu818His) rs780933821
NM_033100.4(CDHR1):c.2455A>G (p.Thr819Ala)
NM_033100.4(CDHR1):c.2459C>T (p.Pro820Leu)
NM_033100.4(CDHR1):c.2473C>A (p.Pro825Thr) rs201515900
NM_033100.4(CDHR1):c.2473C>G (p.Pro825Ala) rs201515900
NM_033100.4(CDHR1):c.2473C>T (p.Pro825Ser) rs201515900
NM_033100.4(CDHR1):c.2477C>T (p.Pro826Leu) rs1173189717
NM_033100.4(CDHR1):c.247G>C (p.Val83Leu)
NM_033100.4(CDHR1):c.2504C>G (p.Pro835Arg)
NM_033100.4(CDHR1):c.2506G>A (p.Val836Ile) rs994272082
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033100.4(CDHR1):c.253C>G (p.Pro85Ala)
NM_033100.4(CDHR1):c.254C>T (p.Pro85Leu)
NM_033100.4(CDHR1):c.2562CAA[1] (p.Asn855del)
NM_033100.4(CDHR1):c.2569G>A (p.Ala857Thr)
NM_033100.4(CDHR1):c.257C>T (p.Thr86Ile)
NM_033100.4(CDHR1):c.260T>C (p.Phe87Ser)
NM_033100.4(CDHR1):c.277G>A (p.Val93Ile) rs1232672493
NM_033100.4(CDHR1):c.296A>G (p.Glu99Gly)
NM_033100.4(CDHR1):c.298-3_298-2del
NM_033100.4(CDHR1):c.298A>G (p.Arg100Gly)
NM_033100.4(CDHR1):c.348+3G>A
NM_033100.4(CDHR1):c.348+5G>T rs1412093692
NM_033100.4(CDHR1):c.348+6T>A
NM_033100.4(CDHR1):c.379G>A (p.Asp127Asn) rs1189565760
NM_033100.4(CDHR1):c.401G>C (p.Arg134Thr)
NM_033100.4(CDHR1):c.40C>G (p.Leu14Val) rs1447398281
NM_033100.4(CDHR1):c.424G>T (p.Ala142Ser) rs1842079343
NM_033100.4(CDHR1):c.430G>T (p.Val144Phe) rs1228647950
NM_033100.4(CDHR1):c.439-12T>C rs886047325
NM_033100.4(CDHR1):c.439G>A (p.Asp147Asn)
NM_033100.4(CDHR1):c.464T>C (p.Phe155Ser) rs1842106980
NM_033100.4(CDHR1):c.476_477inv (p.Ala159Val)
NM_033100.4(CDHR1):c.4A>G (p.Arg2Gly)
NM_033100.4(CDHR1):c.50G>A (p.Cys17Tyr) rs1469025932
NM_033100.4(CDHR1):c.512C>G (p.Thr171Ser) rs759855253
NM_033100.4(CDHR1):c.512C>T (p.Thr171Ile)
NM_033100.4(CDHR1):c.523C>A (p.Gln175Lys) rs1486109432
NM_033100.4(CDHR1):c.52_53delinsGC (p.Leu18Ala) rs2132782900
NM_033100.4(CDHR1):c.538C>G (p.Pro180Ala) rs1842130048
NM_033100.4(CDHR1):c.539C>T (p.Pro180Leu) rs770839275
NM_033100.4(CDHR1):c.546C>A (p.Ala182=) rs747165743
NM_033100.4(CDHR1):c.560G>A (p.Ser187Asn) rs763318304
NM_033100.4(CDHR1):c.560G>C (p.Ser187Thr)
NM_033100.4(CDHR1):c.569T>C (p.Leu190Pro) rs1842131543
NM_033100.4(CDHR1):c.56C>T (p.Ala19Val) rs2132784717
NM_033100.4(CDHR1):c.589A>G (p.Thr197Ala)
NM_033100.4(CDHR1):c.590C>T (p.Thr197Ile)
NM_033100.4(CDHR1):c.593T>C (p.Leu198Pro) rs1842132394
NM_033100.4(CDHR1):c.595G>T (p.Asp199Tyr) rs199671784
NM_033100.4(CDHR1):c.606G>T (p.Arg202Ser) rs376739586
NM_033100.4(CDHR1):c.60G>A (p.Gln20=)
NM_033100.4(CDHR1):c.611G>A (p.Arg204Gln)
NM_033100.4(CDHR1):c.634G>T (p.Ala212Ser) rs200880106
NM_033100.4(CDHR1):c.639+3A>G
NM_033100.4(CDHR1):c.640-14C>A
NM_033100.4(CDHR1):c.640G>C (p.Asp214His)
NM_033100.4(CDHR1):c.649G>A (p.Gly217Arg)
NM_033100.4(CDHR1):c.667G>A (p.Asp223Asn)
NM_033100.4(CDHR1):c.673G>A (p.Val225Met) rs1413854773
NM_033100.4(CDHR1):c.673G>C (p.Val225Leu)
NM_033100.4(CDHR1):c.676T>C (p.Phe226Leu) rs756341257
NM_033100.4(CDHR1):c.692C>T (p.Thr231Met)
NM_033100.4(CDHR1):c.731C>A (p.Pro244His) rs1402687626
NM_033100.4(CDHR1):c.739G>T (p.Val247Leu) rs184579670
NM_033100.4(CDHR1):c.748C>T (p.Pro250Ser)
NM_033100.4(CDHR1):c.749C>G (p.Pro250Arg) rs757336514
NM_033100.4(CDHR1):c.761A>T (p.Tyr254Phe) rs1842159347
NM_033100.4(CDHR1):c.763G>A (p.Val255Met)
NM_033100.4(CDHR1):c.76C>T (p.His26Tyr)
NM_033100.4(CDHR1):c.774C>G (p.Asp258Glu)
NM_033100.4(CDHR1):c.776C>A (p.Thr259Asn)
NM_033100.4(CDHR1):c.783+11G>A rs767235020
NM_033100.4(CDHR1):c.783+5G>A
NM_033100.4(CDHR1):c.793G>T (p.Val265Leu)
NM_033100.4(CDHR1):c.79TTC[1] (p.Phe28del) rs2132784830
NM_033100.4(CDHR1):c.7C>T (p.Arg3Cys)
NM_033100.4(CDHR1):c.818G>C (p.Gly273Ala)
NM_033100.4(CDHR1):c.823C>T (p.Arg275Trp) rs200640039
NM_033100.4(CDHR1):c.827G>A (p.Gly276Asp) rs1589300382
NM_033100.4(CDHR1):c.835A>G (p.Asn279Asp) rs2132811909
NM_033100.4(CDHR1):c.848A>G (p.Tyr283Cys) rs886047326
NM_033100.4(CDHR1):c.853C>T (p.Leu285Phe)
NM_033100.4(CDHR1):c.85G>A (p.Asp29Asn) rs909628849
NM_033100.4(CDHR1):c.862G>A (p.Gly288Arg) rs1842191878
NM_033100.4(CDHR1):c.868G>A (p.Asp290Asn) rs373576430
NM_033100.4(CDHR1):c.868G>C (p.Asp290His)
NM_033100.4(CDHR1):c.868G>T (p.Asp290Tyr)
NM_033100.4(CDHR1):c.872G>A (p.Gly291Glu)
NM_033100.4(CDHR1):c.880G>C (p.Glu294Gln)
NM_033100.4(CDHR1):c.913A>T (p.Thr305Ser) rs1842216453
NM_033100.4(CDHR1):c.922C>T (p.Pro308Ser) rs2132814653
NM_033100.4(CDHR1):c.923C>A (p.Pro308Gln) rs772469430
NM_033100.4(CDHR1):c.923C>G (p.Pro308Arg)
NM_033100.4(CDHR1):c.928C>G (p.Gln310Glu) rs1842216995
NM_033100.4(CDHR1):c.94G>A (p.Val32Ile) rs778681972
NM_033100.4(CDHR1):c.950_958del (p.Glu317_His319del)
NM_033100.4(CDHR1):c.956A>G (p.His319Arg) rs2132814824
NM_033100.4(CDHR1):c.957T>A (p.His319Gln) rs748565690
NM_033100.4(CDHR1):c.957T>G (p.His319Gln) rs748565690
NM_033100.4(CDHR1):c.958_963+2dup rs2132814843

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