ClinVar Miner

List of variants in gene CHD7 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170 0.00625
NM_017780.4(CHD7):c.5051-4C>T rs71640288 0.00577
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525 0.00505
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820 0.00358
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172 0.00354
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00267
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) rs61746518 0.00255
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=) rs61736186 0.00229
NM_017780.4(CHD7):c.1179A>G (p.Pro393=) rs111238892 0.00177
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val) rs45521933 0.00176
NM_017780.4(CHD7):c.5754T>C (p.Thr1918=) rs61746542 0.00167
NM_017780.4(CHD7):c.5051-25A>G rs185141793 0.00153
NM_017780.4(CHD7):c.1419G>C (p.Gly473=) rs186394299 0.00144
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) rs71640285 0.00137
NM_017780.4(CHD7):c.-230G>C rs886063030 0.00124
NM_017780.4(CHD7):c.*1116C>G rs45504193 0.00117
NM_017780.4(CHD7):c.*1143A>G rs45573835 0.00117
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=) rs34527521 0.00100
NM_017780.4(CHD7):c.*251T>C rs529121143 0.00068
NM_017780.4(CHD7):c.2835+8T>C rs202141372 0.00060
NM_017780.4(CHD7):c.5300+8C>T rs151322460 0.00055
NM_017780.4(CHD7):c.7551A>G (p.Lys2517=) rs202020722 0.00048
NM_017780.4(CHD7):c.2751G>A (p.Thr917=) rs369429961 0.00040
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=) rs199828744 0.00036
NM_017780.4(CHD7):c.1188G>T (p.Met396Ile) rs201653177 0.00033
NM_017780.4(CHD7):c.444G>A (p.Arg148=) rs376455384 0.00028
NM_017780.4(CHD7):c.3222C>T (p.Ser1074=) rs199675568 0.00023
NM_017780.4(CHD7):c.6711C>T (p.Ser2237=) rs370385319 0.00023
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) rs61743849 0.00021
NM_017780.4(CHD7):c.7085G>A (p.Ser2362Asn) rs139876661 0.00021
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=) rs376020564 0.00015
NM_017780.4(CHD7):c.6775G>A (p.Ala2259Thr) rs200806228 0.00014
NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His) rs377535841 0.00013
NM_017780.4(CHD7):c.8196C>T (p.Ala2732=) rs375800664 0.00013
NM_017780.4(CHD7):c.1203A>G (p.Ala401=) rs147960212 0.00012
NM_017780.4(CHD7):c.5310T>C (p.Asp1770=) rs377723386 0.00012
NM_017780.4(CHD7):c.4653G>A (p.Leu1551=) rs368093874 0.00011
NM_017780.4(CHD7):c.6108G>A (p.Pro2036=) rs372755547 0.00010
NM_017780.4(CHD7):c.1375C>T (p.Arg459Cys) rs753953205 0.00009
NM_017780.4(CHD7):c.509C>T (p.Pro170Leu) rs369545523 0.00009
NM_017780.4(CHD7):c.127A>G (p.Ile43Val) rs201542180 0.00008
NM_017780.4(CHD7):c.1324G>A (p.Ala442Thr) rs368086966 0.00008
NM_017780.4(CHD7):c.3765G>A (p.Pro1255=) rs371633293 0.00008
NM_017780.4(CHD7):c.8250T>G (p.Phe2750Leu) rs3750308 0.00008
NM_017780.4(CHD7):c.8718C>T (p.Ser2906=) rs372889781 0.00008
NM_017780.4(CHD7):c.8580C>T (p.Ser2860=) rs767368987 0.00007
NM_017780.4(CHD7):c.2788G>A (p.Glu930Lys) rs377330239 0.00006
NM_017780.4(CHD7):c.4275C>T (p.Phe1425=) rs368919638 0.00006
NM_017780.4(CHD7):c.5015C>T (p.Ala1672Val) rs61737194 0.00006
NM_017780.4(CHD7):c.510G>A (p.Pro170=) rs748841915 0.00006
NM_017780.4(CHD7):c.90G>A (p.Pro30=) rs374464240 0.00006
NM_017780.4(CHD7):c.3366G>C (p.Lys1122Asn) rs41272440 0.00005
NM_017780.4(CHD7):c.7082G>A (p.Arg2361Lys) rs777753993 0.00005
NM_017780.4(CHD7):c.1030G>A (p.Val344Ile) rs199919181 0.00004
NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val) rs751726519 0.00004
NM_017780.4(CHD7):c.5589G>A (p.Pro1863=) rs376806146 0.00004
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=) rs528130317 0.00004
NM_017780.4(CHD7):c.6577G>A (p.Glu2193Lys) rs918223900 0.00004
NM_017780.4(CHD7):c.7253G>A (p.Arg2418Gln) rs761410781 0.00004
NM_017780.4(CHD7):c.8550T>C (p.Asn2850=) rs199565939 0.00004
NM_017780.4(CHD7):c.2097-20C>T rs569155117 0.00003
NM_017780.4(CHD7):c.2758C>T (p.Arg920Trp) rs773773546 0.00003
NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp) rs200441929 0.00003
NM_017780.4(CHD7):c.7107C>T (p.Val2369=) rs773674773 0.00003
NM_017780.4(CHD7):c.8197G>A (p.Ala2733Thr) rs370231679 0.00003
NM_017780.4(CHD7):c.1053A>G (p.Val351=) rs199880694 0.00002
NM_017780.4(CHD7):c.4692C>G (p.Leu1564=) rs777176819 0.00002
NM_017780.4(CHD7):c.500C>T (p.Pro167Leu) rs61742851 0.00002
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr) rs554647169 0.00002
NM_017780.4(CHD7):c.8507C>T (p.Pro2836Leu) rs925177812 0.00002
NM_017780.4(CHD7):c.1105C>G (p.Pro369Ala) rs766747354 0.00001
NM_017780.4(CHD7):c.2192C>T (p.Pro731Leu) rs1064794416 0.00001
NM_017780.4(CHD7):c.2613+4C>T rs779615403 0.00001
NM_017780.4(CHD7):c.3463C>T (p.Arg1155Cys) rs201769233 0.00001
NM_017780.4(CHD7):c.3681A>G (p.Thr1227=) rs748869169 0.00001
NM_017780.4(CHD7):c.4778G>A (p.Arg1593His) rs766632082 0.00001
NM_017780.4(CHD7):c.5390G>C (p.Gly1797Ala) rs780597592 0.00001
NM_017780.4(CHD7):c.6169C>T (p.Arg2057Cys) rs192260844 0.00001
NM_017780.4(CHD7):c.6396T>C (p.Ala2132=) rs763720460 0.00001
NM_017780.4(CHD7):c.6775+6G>T rs773804340 0.00001
NM_017780.4(CHD7):c.73G>A (p.Gly25Arg) rs759887905 0.00001
NM_017780.4(CHD7):c.8957G>C (p.Gly2986Ala) rs374004489 0.00001
GRCh37/hg19 8q12.2(chr8:61750227-61750394)x3
NM_017780.4(CHD7):c.1077A>G (p.Gln359=) rs1809095852
NM_017780.4(CHD7):c.110T>C (p.Met37Thr)
NM_017780.4(CHD7):c.1602C>A (p.His534Gln) rs1386056055
NM_017780.4(CHD7):c.2352C>G (p.Ser784=)
NM_017780.4(CHD7):c.2504_2508del (p.Tyr835fs) rs886040982
NM_017780.4(CHD7):c.2600A>G (p.Lys867Arg)
NM_017780.4(CHD7):c.2708A>G (p.His903Arg)
NM_017780.4(CHD7):c.2959C>T (p.Arg987Ter) rs886040983
NM_017780.4(CHD7):c.3033T>C (p.Tyr1011=)
NM_017780.4(CHD7):c.3226A>G (p.Lys1076Glu) rs1804153455
NM_017780.4(CHD7):c.3383del (p.His1128fs) rs2150761067
NM_017780.4(CHD7):c.342C>A (p.Pro114=)
NM_017780.4(CHD7):c.3535C>A (p.Gln1179Lys)
NM_017780.4(CHD7):c.3565C>T (p.Arg1189Cys)
NM_017780.4(CHD7):c.3655C>T (p.Arg1219Ter) rs372174845
NM_017780.4(CHD7):c.4133C>T (p.Ala1378Val)
NM_017780.4(CHD7):c.4420G>A (p.Asp1474Asn)
NM_017780.4(CHD7):c.4593G>A (p.Trp1531Ter) rs2150786107
NM_017780.4(CHD7):c.470G>A (p.Arg157Gln)
NM_017780.4(CHD7):c.4844T>A (p.Val1615Asp)
NM_017780.4(CHD7):c.4882G>A (p.Gly1628Arg) rs944955791
NM_017780.4(CHD7):c.5109A>G (p.Thr1703=)
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.5436C>A (p.Asp1812Glu) rs1586440484
NM_017780.4(CHD7):c.5723C>A (p.Thr1908Asn)
NM_017780.4(CHD7):c.5833C>T (p.Arg1945Ter) rs757160222
NM_017780.4(CHD7):c.6087del (p.Val2030fs) rs1805506816
NM_017780.4(CHD7):c.609T>A (p.His203Gln)
NM_017780.4(CHD7):c.6157C>T (p.Arg2053Ter) rs587783450
NM_017780.4(CHD7):c.6196G>C (p.Glu2066Gln)
NM_017780.4(CHD7):c.6378T>C (p.Asp2126=)
NM_017780.4(CHD7):c.6440C>G (p.Ala2147Gly) rs966839733
NM_017780.4(CHD7):c.664C>T (p.Gln222Ter) rs1809060555
NM_017780.4(CHD7):c.6850C>G (p.Arg2284Gly) rs587783454
NM_017780.4(CHD7):c.6924G>A (p.Ser2308=) rs61733338
NM_017780.4(CHD7):c.695del (p.Pro232fs)
NM_017780.4(CHD7):c.7192C>T (p.Arg2398Cys)
NM_017780.4(CHD7):c.7267A>G (p.Met2423Val) rs1293236067
NM_017780.4(CHD7):c.72C>T (p.Leu24=) rs267601960
NM_017780.4(CHD7):c.7426dup (p.Asp2476fs)
NM_017780.4(CHD7):c.7460C>T (p.Ala2487Val) rs1349434680
NM_017780.4(CHD7):c.7672C>T (p.Pro2558Ser)
NM_017780.4(CHD7):c.7814_7815del (p.Met2605fs) rs1805949598
NM_017780.4(CHD7):c.7879C>T (p.Arg2627Ter) rs1064793346
NM_017780.4(CHD7):c.7971+8C>T rs1295446479
NM_017780.4(CHD7):c.7972-8C>T
NM_017780.4(CHD7):c.8037T>G (p.Phe2679Leu)
NM_017780.4(CHD7):c.8187C>G (p.Ala2729=)
NM_017780.4(CHD7):c.8196C>G (p.Ala2732=)
NM_017780.4(CHD7):c.828C>A (p.Ser276=)
NM_017780.4(CHD7):c.8477A>G (p.Asn2826Ser) rs370129047
NM_017780.4(CHD7):c.8580_8581insT (p.Thr2861fs)
NM_017780.4(CHD7):c.8601T>C (p.Ala2867=)
NM_017780.4(CHD7):c.8741G>A (p.Gly2914Glu)
NM_017780.4(CHD7):c.878G>T (p.Ser293Ile)
NM_017780.4(CHD7):c.8910C>G (p.Leu2970=)
NM_017780.4(CHD7):c.934C>T (p.Arg312Ter) rs886041166
NM_017780.4(CHD7):c.946A>G (p.Ser316Gly) rs1010032031
NM_017780.4(CHD7):c.972C>A (p.Asn324Lys)

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