ClinVar Miner

List of variants in gene CDHR1 reported as uncertain significance for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 130
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HGVS dbSNP gnomAD frequency
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.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.*2019A>G rs546338766 0.00121
NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln) rs140621272 0.00121
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.*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.2001C>T (p.Ser667=) rs139302633 0.00023
NM_033100.4(CDHR1):c.*1174G>A rs886047341 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.1589C>G (p.Thr530Ser) rs140097244 0.00016
NM_033100.4(CDHR1):c.1187A>G (p.Asn396Ser) rs145353541 0.00014
NM_033100.4(CDHR1):c.*390C>T rs139848391 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.1432G>A (p.Val478Ile) rs756095042 0.00009
NM_033100.4(CDHR1):c.526-14C>A rs745955360 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.2027T>A (p.Ile676Asn) rs186486854 0.00008
NM_033100.4(CDHR1):c.1554-3C>A rs377416569 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.1854C>T (p.Asn618=) rs373373894 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.*2577G>C rs886047349 0.00004
NM_033100.4(CDHR1):c.*2979C>T rs1212903900 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.601G>A (p.Glu201Lys) rs200646223 0.00004
NM_033100.4(CDHR1):c.783+3G>A rs759265185 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.1464C>T (p.Gly488=) rs193142630 0.00003
NM_033100.4(CDHR1):c.628G>A (p.Val210Met) rs774747506 0.00003
NM_033100.4(CDHR1):c.784-4C>T rs768106524 0.00003
NM_033100.4(CDHR1):c.983C>T (p.Ala328Val) rs749657135 0.00003
NM_033100.4(CDHR1):c.152-9T>C rs754726772 0.00002
NM_033100.4(CDHR1):c.1853A>G (p.Asn618Ser) rs776826024 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.1320+11C>T rs201940855 0.00001
NM_033100.4(CDHR1):c.2105T>A (p.Val702Glu) rs778906376 0.00001
NM_033100.4(CDHR1):c.2161A>G (p.Thr721Ala) rs886047328 0.00001
NM_033100.4(CDHR1):c.2462A>G (p.Gln821Arg) rs375803729 0.00001
NM_033100.4(CDHR1):c.364G>A (p.Val122Met) rs886047324 0.00001
NM_033100.4(CDHR1):c.542T>C (p.Phe181Ser) rs184241207 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.886A>G (p.Asn296Asp) rs562607967 0.00001
NM_033100.4(CDHR1):c.964-10C>T rs886047327 0.00001
NM_033100.4(CDHR1):c.*1055C>A rs117975094
NM_033100.4(CDHR1):c.*1487C>A rs768873138
NM_033100.4(CDHR1):c.*1914C>G rs553379136
NM_033100.4(CDHR1):c.*2296G>C rs886047346
NM_033100.4(CDHR1):c.*242T>G rs886047331
NM_033100.4(CDHR1):c.*305C>G rs41291360
NM_033100.4(CDHR1):c.*403G>C rs1842405190
NM_033100.4(CDHR1):c.*434G>A rs1842405585
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.1132C>T (p.Arg378Trp) rs146783539
NM_033100.4(CDHR1):c.1321-14T>A rs1564663852
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.1367C>A (p.Ala456Glu) rs142742994
NM_033100.4(CDHR1):c.138G>A (p.Glu46=) rs886047322
NM_033100.4(CDHR1):c.1463G>A (p.Gly488Asp) rs1842323988
NM_033100.4(CDHR1):c.151+6T>C rs1842015989
NM_033100.4(CDHR1):c.1730G>A (p.Gly577Glu) rs761537924
NM_033100.4(CDHR1):c.1911C>T (p.Ser637=) rs1842369044
NM_033100.4(CDHR1):c.1982G>C (p.Arg661Pro) rs150840551
NM_033100.4(CDHR1):c.2051_2056del (p.Arg684_Ser685del) rs760555697
NM_033100.4(CDHR1):c.2101del (p.Ala701fs) rs2132836714
NM_033100.4(CDHR1):c.2184G>C (p.Lys728Asn) rs886047329
NM_033100.4(CDHR1):c.2197G>T (p.Val733Phe) rs1589309412
NM_033100.4(CDHR1):c.2292T>C (p.Ala764=) rs886047330
NM_033100.4(CDHR1):c.296A>G (p.Glu99Gly)
NM_033100.4(CDHR1):c.348+5G>T rs1412093692
NM_033100.4(CDHR1):c.41T>A (p.Leu14Gln)
NM_033100.4(CDHR1):c.439-12T>C rs886047325
NM_033100.4(CDHR1):c.739G>T (p.Val247Leu) rs184579670
NM_033100.4(CDHR1):c.783+11G>A rs767235020
NM_033100.4(CDHR1):c.848A>G (p.Tyr283Cys) rs886047326

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