ClinVar Miner

List of variants in gene NODAL studied for cardiovascular disorder

Included ClinVar conditions (1426):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_018055.5(NODAL):c.494A>G (p.His165Arg) rs1904589 0.56006
NM_018055.5(NODAL):c.*740T>C rs2279253 0.45837
NM_018055.5(NODAL):c.*722G>C rs2279254 0.43411
NM_018055.5(NODAL):c.193+12C>T rs10999338 0.35409
NM_018055.5(NODAL):c.*479C>T rs80138796 0.01102
NM_018055.5(NODAL):c.*886G>A rs58468830 0.01100
NM_018055.5(NODAL):c.*404T>C rs77232076 0.01099
NM_018055.5(NODAL):c.*62A>T rs76889088 0.01097
NM_018055.5(NODAL):c.588C>G (p.Leu196=) rs2231959 0.00714
NM_018055.5(NODAL):c.*328G>A rs543607155 0.00286
NM_018055.5(NODAL):c.*677C>T rs184218697 0.00280
NM_018055.5(NODAL):c.*678G>A rs374692279 0.00130
NM_018055.5(NODAL):c.216C>T (p.Asn72=) rs138195571 0.00124
NM_018055.5(NODAL):c.916C>T (p.His306Tyr) rs148708629 0.00085
NM_018055.5(NODAL):c.545C>T (p.Pro182Leu) rs143239895 0.00076
NM_018055.5(NODAL):c.555C>A (p.Pro185=) rs368748141 0.00061
NM_018055.5(NODAL):c.972G>A (p.Leu324=) rs143903715 0.00056
NM_018055.5(NODAL):c.904C>T (p.Arg302Cys) rs150819707 0.00051
NM_018055.5(NODAL):c.357C>T (p.Pro119=) rs77151171 0.00038
NM_018055.5(NODAL):c.*121C>A rs578069296 0.00034
NM_018055.5(NODAL):c.*887C>T rs553447349 0.00029
NM_018055.5(NODAL):c.548G>A (p.Arg183Gln) rs104894169 0.00023
NM_018055.5(NODAL):c.355C>T (p.Pro119Ser) rs140876376 0.00017
NM_018055.5(NODAL):c.531T>C (p.Ala177=) rs145468639 0.00016
NM_018055.5(NODAL):c.607G>A (p.Glu203Lys) rs10999334 0.00015
NM_018055.5(NODAL):c.*820G>C rs941592035 0.00014
NM_018055.5(NODAL):c.*836G>C rs886047098 0.00013
NM_018055.5(NODAL):c.662G>A (p.Arg221Gln) rs138681813 0.00012
NM_018055.5(NODAL):c.*360A>G rs576189812 0.00011
NM_018055.5(NODAL):c.1020C>T (p.Ile340=) rs142286836 0.00011
NM_018055.5(NODAL):c.586C>T (p.Leu196Phe) rs200445211 0.00009
NM_018055.5(NODAL):c.9C>T (p.Ala3=) rs376002393 0.00009
NM_018055.5(NODAL):c.658T>C (p.Trp220Arg) rs776168916 0.00008
NM_018055.5(NODAL):c.*480G>A rs886047101 0.00007
NM_018055.5(NODAL):c.281G>A (p.Arg94Gln) rs146018217 0.00007
NM_018055.5(NODAL):c.816C>T (p.Asn272=) rs774058854 0.00007
NM_018055.5(NODAL):c.221C>T (p.Thr74Met) rs886047104 0.00006
NM_018055.5(NODAL):c.672G>A (p.Glu224=) rs745724942 0.00006
NM_018055.5(NODAL):c.924C>T (p.Val308=) rs188029435 0.00006
NM_018055.5(NODAL):c.823C>T (p.Arg275Cys) rs781366461 0.00005
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283 0.00004
NM_018055.5(NODAL):c.-9C>T rs756480830 0.00003
NM_018055.5(NODAL):c.*729A>G rs753318696 0.00002
NM_018055.5(NODAL):c.*676C>T rs886047100 0.00001
NM_018055.5(NODAL):c.203T>C (p.Val68Ala) rs886047105 0.00001
NM_018055.5(NODAL):c.211C>A (p.Gln71Lys) rs748403461 0.00001
NM_018055.5(NODAL):c.280C>T (p.Arg94Trp) rs778607015 0.00001
NM_018055.5(NODAL):c.393G>C (p.Arg131=) rs765235855 0.00001
NM_018055.5(NODAL):c.473C>T (p.Pro158Leu) rs772585502 0.00001
NM_018055.5(NODAL):c.512A>T (p.Lys171Met) rs573873795 0.00001
NM_018055.5(NODAL):c.514C>G (p.Gln172Glu) rs886047102 0.00001
NM_018055.5(NODAL):c.550C>T (p.Pro184Ser) rs752979542 0.00001
NM_018055.5(NODAL):c.593C>A (p.Ser198Tyr) rs377663429 0.00001
NM_018055.5(NODAL):c.661C>T (p.Arg221Trp) rs144444359 0.00001
NM_018055.5(NODAL):c.670G>A (p.Glu224Lys) rs1470460821 0.00001
NM_018055.5(NODAL):c.817G>A (p.Ala273Thr) rs770958126 0.00001
NM_018055.5(NODAL):c.869C>T (p.Pro290Leu) rs757713122 0.00001
NM_018055.5(NODAL):c.891+1G>A rs878855044 0.00001
NM_018055.5(NODAL):c.959C>T (p.Pro320Leu) rs147251818 0.00001
NM_018055.5(NODAL):c.963G>A (p.Leu321=) rs772060498 0.00001
NM_018055.5(NODAL):c.*125A>C rs1845284740
NM_018055.5(NODAL):c.*329A>C rs1845280905
NM_018055.5(NODAL):c.*356G>A rs556853359
NM_018055.5(NODAL):c.*747dup rs886047099
NM_018055.5(NODAL):c.*829T>G rs1845269935
NM_018055.5(NODAL):c.1012G>C (p.Asp338His)
NM_018055.5(NODAL):c.1021G>T (p.Val341Leu)
NM_018055.5(NODAL):c.1039C>T (p.Leu347Phe)
NM_018055.5(NODAL):c.107C>G (p.Ser36Trp) rs1380108149
NM_018055.5(NODAL):c.125C>T (p.Ala42Val) rs146471900
NM_018055.5(NODAL):c.130A>C (p.Met44Leu)
NM_018055.5(NODAL):c.152C>T (p.Pro51Leu)
NM_018055.5(NODAL):c.158_165del (p.Pro53fs)
NM_018055.5(NODAL):c.169ATC[1] (p.Ile58del) rs1845430541
NM_018055.5(NODAL):c.188C>A (p.Ala63Glu)
NM_018055.5(NODAL):c.193+4G>A
NM_018055.5(NODAL):c.194-1G>T rs1564667617
NM_018055.5(NODAL):c.222G>A (p.Thr74=)
NM_018055.5(NODAL):c.254A>G (p.Gln85Arg) rs1845347178
NM_018055.5(NODAL):c.272C>A (p.Ala91Asp)
NM_018055.5(NODAL):c.291G>T (p.Leu97=)
NM_018055.5(NODAL):c.2T>C (p.Met1Thr)
NM_018055.5(NODAL):c.347A>T (p.Gln116Leu) rs1845345139
NM_018055.5(NODAL):c.361A>T (p.Thr121Ser)
NM_018055.5(NODAL):c.397C>T (p.Gln133Ter) rs1447874899
NM_018055.5(NODAL):c.404A>G (p.Asp135Gly)
NM_018055.5(NODAL):c.406C>T (p.Leu136=)
NM_018055.5(NODAL):c.417C>T (p.Val139=) rs764201898
NM_018055.5(NODAL):c.419C>T (p.Thr140Ile) rs2132215381
NM_018055.5(NODAL):c.446del (p.Gly149fs) rs1589152470
NM_018055.5(NODAL):c.467C>T (p.Thr156Ile) rs1845341646
NM_018055.5(NODAL):c.474T>A (p.Pro158=)
NM_018055.5(NODAL):c.53A>G (p.Gln18Arg) rs1441391199
NM_018055.5(NODAL):c.555del (p.Thr186fs) rs772802856
NM_018055.5(NODAL):c.555dup (p.Thr186fs) rs772802856
NM_018055.5(NODAL):c.591C>A (p.Tyr197Ter) rs1589152355
NM_018055.5(NODAL):c.661C>A (p.Arg221=) rs144444359
NM_018055.5(NODAL):c.673G>A (p.Gly225Arg) rs1564667208
NM_018055.5(NODAL):c.679C>G (p.Leu227Val) rs1589152298
NM_018055.5(NODAL):c.68C>T (p.Thr23Met)
NM_018055.5(NODAL):c.700_707del (p.Arg234fs) rs1564667180
NM_018055.5(NODAL):c.700_723delinsTTGACTTCC (p.Arg234_Pro241delinsLeuThrSer) rs2132214841
NM_018055.5(NODAL):c.702G>A (p.Arg234=) rs755206267
NM_018055.5(NODAL):c.759G>A (p.Gln253=) rs1554850001
NM_018055.5(NODAL):c.819C>G (p.Ala273=) rs749265748
NM_018055.5(NODAL):c.824G>A (p.Arg275His) rs555563029
NM_018055.5(NODAL):c.835G>A (p.Glu279Lys)
NM_018055.5(NODAL):c.870G>A (p.Pro290=)
NM_018055.5(NODAL):c.870G>T (p.Pro290=) rs763525961
NM_018055.5(NODAL):c.891+19G>C
NM_018055.5(NODAL):c.891+2T>A rs1564667078
NM_018055.5(NODAL):c.914C>T (p.Pro305Leu)
NM_018055.5(NODAL):c.926C>T (p.Pro309Leu) rs1845289922
NM_018055.5(NODAL):c.93G>A (p.Thr31=)

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