ClinVar Miner

List of variants studied for VACTERL with hydrocephalus

Included ClinVar conditions (7):
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ClinVar version:
Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_001018113.3(FANCB):c.-173G>C rs2188383 0.63320
NM_001018113.3(FANCB):c.1327-10T>C rs2905223 0.53797
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu) rs41309679 0.05446
NM_001018113.3(FANCB):c.*14T>C rs2375726 0.02466
NM_001018113.3(FANCB):c.-229T>G rs149617434 0.00830
NM_001018113.3(FANCB):c.402A>G (p.Leu134=) rs147260208 0.00701
NM_003413.4(ZIC3):c.649C>G (p.Pro217Ala) rs104894963 0.00650
NM_001018113.3(FANCB):c.*66T>G rs143434225 0.00525
NM_003413.4(ZIC3):c.*1189A>G rs41300285 0.00393
NM_003413.4(ZIC3):c.*41A>G rs12387258 0.00328
NM_003413.4(ZIC3):c.*489A>G rs183286584 0.00266
NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys) rs147232392 0.00206
NM_003413.4(ZIC3):c.607G>A (p.Ala203Thr) rs140823819 0.00113
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373 0.00109
NM_003413.4(ZIC3):c.*260T>C rs41299098 0.00074
NM_000314.8(PTEN):c.-666G>A rs553371022 0.00069
NM_001018113.3(FANCB):c.*33T>C rs187611308 0.00068
NM_001018113.3(FANCB):c.1442G>A (p.Arg481His) rs140198444 0.00053
NM_001018113.3(FANCB):c.69T>C (p.Leu23=) rs151173533 0.00047
NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu) rs142304943 0.00046
NM_001018113.3(FANCB):c.1393T>C (p.Ser465Pro) rs143976596 0.00038
NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly) rs143131218 0.00038
NM_003413.4(ZIC3):c.-424C>A rs933941596 0.00032
NM_001018113.3(FANCB):c.2477C>T (p.Thr826Met) rs201436396 0.00031
NM_001018113.3(FANCB):c.1371C>T (p.Val457=) rs149695930 0.00029
NM_003413.4(ZIC3):c.*1540G>A rs184855783 0.00026
NM_001018113.3(FANCB):c.1995C>T (p.Pro665=) rs192743430 0.00024
NM_003413.4(ZIC3):c.*1237A>T rs772508899 0.00024
NM_003413.4(ZIC3):c.*26T>C rs370928726 0.00024
NM_003413.4(ZIC3):c.-335C>T rs181414932 0.00022
NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu) rs199909156 0.00020
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser) rs200303151 0.00019
NM_003413.4(ZIC3):c.131C>G (p.Thr44Ser) rs78870836 0.00018
NM_001018113.3(FANCB):c.2411A>G (p.Asp804Gly) rs148257882 0.00015
NM_003413.4(ZIC3):c.*1362T>G rs775549541 0.00015
NM_001018113.3(FANCB):c.869T>C (p.Met290Thr) rs754552650 0.00014
NM_001018113.3(FANCB):c.*151A>G rs1480015600 0.00011
NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly) rs140363445 0.00010
NM_001018113.3(FANCB):c.504C>G (p.Ser168=) rs373738816 0.00010
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
NM_001018113.3(FANCB):c.-111A>G rs185118376 0.00009
NM_001018113.3(FANCB):c.-232G>A rs756766337 0.00009
NM_001018113.3(FANCB):c.1817G>A (p.Ser606Asn) rs148560784 0.00009
NM_001018113.3(FANCB):c.-230A>T rs1020271259 0.00008
NM_001018113.3(FANCB):c.330A>C (p.Leu110=) rs201633684 0.00008
NM_001018113.3(FANCB):c.362G>A (p.Arg121His) rs142289802 0.00008
NM_003413.4(ZIC3):c.-479C>T rs1022475218 0.00007
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) rs199510538 0.00005
NM_001018113.3(FANCB):c.1118A>G (p.Asp373Gly) rs866138487 0.00004
NM_001126049.2(KLLN):c.-1039G>A rs587779999 0.00004
NM_003413.4(ZIC3):c.906C>T (p.Cys302=) rs779221820 0.00004
NM_001018113.3(FANCB):c.1987A>G (p.Thr663Ala) rs184796918 0.00003
NM_000314.8(PTEN):c.-765G>A rs587776674 0.00002
NM_001018113.3(FANCB):c.196A>C (p.Thr66Pro) rs943801800 0.00002
NM_001018113.3(FANCB):c.199A>G (p.Ile67Val) rs761346761 0.00002
NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val) rs761492600 0.00002
NM_001018113.3(FANCB):c.2385T>C (p.Ser795=) rs1034395123 0.00002
NM_003413.4(ZIC3):c.*1581G>A rs1308496629 0.00002
NM_003413.4(ZIC3):c.116C>T (p.Pro39Leu) rs1302645424 0.00002
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_001018113.3(FANCB):c.1179T>C (p.Pro393=) rs764156696 0.00001
NM_001018113.3(FANCB):c.1226G>A (p.Arg409Gln) rs753030842 0.00001
NM_001018113.3(FANCB):c.1265C>T (p.Ser422Phe) rs1057515805 0.00001
NM_001018113.3(FANCB):c.1310C>T (p.Thr437Met) rs772802668 0.00001
NM_001018113.3(FANCB):c.1606C>T (p.Pro536Ser) rs773313492 0.00001
NM_001018113.3(FANCB):c.1719G>T (p.Glu573Asp) rs773221142 0.00001
NM_001018113.3(FANCB):c.183C>T (p.Ser61=) rs1317100453 0.00001
NM_001018113.3(FANCB):c.2311A>G (p.Ser771Gly) rs750381270 0.00001
NM_001018113.3(FANCB):c.652G>C (p.Glu218Gln) rs747819351 0.00001
NM_001018113.3(FANCB):c.800C>T (p.Ser267Leu) rs374217132 0.00001
NM_001018113.3(FANCB):c.898G>T (p.Val300Phe) rs757610875 0.00001
NM_001018113.3(FANCB):c.910A>G (p.Ile304Val) rs754238911 0.00001
NM_001018113.3(FANCB):c.914C>A (p.Ser305Tyr) rs1057515808 0.00001
NM_002968.3(SALL1):c.602A>G (p.Gln201Arg) rs775143619 0.00001
NM_003413.4(ZIC3):c.*153A>G rs1931418607 0.00001
NM_003413.4(ZIC3):c.668A>G (p.Asn223Ser) rs1034877221 0.00001
NM_000314.6(PTEN):c.-868G>C rs587782133
NM_000314.8(PTEN):c.-822G>T rs587779993
NM_000314.8(PTEN):c.253+2T>A rs1224040268
NM_000314.8(PTEN):c.860C>G (p.Ser287Ter) rs863224909
NM_000314.8(PTEN):c.862G>A (p.Glu288Lys) rs1554825528
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_001018113.3(FANCB):c.-219G>T rs373175926
NM_001018113.3(FANCB):c.1078A>G (p.Thr360Ala) rs956498867
NM_001018113.3(FANCB):c.1105-26TATT[4] rs398123537
NM_001018113.3(FANCB):c.1130A>G (p.Asp377Gly) rs2147425036
NM_001018113.3(FANCB):c.1317T>A (p.Ser439Arg) rs776802337
NM_001018113.3(FANCB):c.1327-3del rs202067682
NM_001018113.3(FANCB):c.1487C>G (p.Ser496Cys) rs993307430
NM_001018113.3(FANCB):c.1615T>C (p.Tyr539His) rs2147391126
NM_001018113.3(FANCB):c.1652G>A (p.Arg551Lys) rs2092370985
NM_001018113.3(FANCB):c.1767A>G (p.Thr589=) rs964099207
NM_001018113.3(FANCB):c.1838G>C (p.Arg613Pro) rs144764663
NM_001018113.3(FANCB):c.1929G>A (p.Glu643=) rs2092368698
NM_001018113.3(FANCB):c.2373C>T (p.Ser791=) rs2092363086
NM_001018113.3(FANCB):c.2565_2569delinsTTTATAATTCTGT (p.Lys855_Ser857delinsAsnLeuTer) rs2147386189
NM_001018113.3(FANCB):c.306T>A (p.Asn102Lys) rs2147447239
NM_001018113.3(FANCB):c.350A>C (p.Lys117Thr) rs1057515811
NM_001018113.3(FANCB):c.357A>T (p.Glu119Asp) rs970828551
NM_001018113.3(FANCB):c.593A>C (p.Gln198Pro) rs2092462570
NM_001018113.3(FANCB):c.706G>A (p.Val236Met) rs746389250
NM_001018113.3(FANCB):c.782G>A (p.Arg261Gln) rs1057515809
NM_001018113.3(FANCB):c.809A>G (p.Asn270Ser) rs2092461325
NM_001018113.3(FANCB):c.952-13C>T rs1057515807
NM_001126049.2(KLLN):c.-736G>C rs1554889801
NM_001126049.2(KLLN):c.-828C>T rs786203674
NM_003413.4(ZIC3):c.*1171_*1173del rs1057515786
NM_003413.4(ZIC3):c.*1492T>C rs1931437482
NM_003413.4(ZIC3):c.*1715A>G rs1057515787
NM_003413.4(ZIC3):c.*2024G>C rs113057036
NM_003413.4(ZIC3):c.*750A>G rs1931426956
NM_003413.4(ZIC3):c.*798_*802del rs899320157
NM_003413.4(ZIC3):c.-169A>C rs1931342053
NM_003413.4(ZIC3):c.1010A>G (p.Lys337Arg) rs1931371643
NM_003413.4(ZIC3):c.1103del (p.Arg368fs) rs2124185586
NM_003413.4(ZIC3):c.163GCC[3] (p.Ala54_Ala55dup) rs398122850
NM_018062.4(FANCL):c.430del (p.Ser144fs) rs869320685

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