ClinVar Miner

List of variants in gene NODAL studied for Holoprosencephaly sequence

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Total variants: 33
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HGVS dbSNP
NM_018055.5(NODAL):c.*121C>A rs578069296
NM_018055.5(NODAL):c.*356G>A rs556853359
NM_018055.5(NODAL):c.*404T>C rs77232076
NM_018055.5(NODAL):c.*479C>T rs80138796
NM_018055.5(NODAL):c.*480G>A rs886047101
NM_018055.5(NODAL):c.*62A>T rs76889088
NM_018055.5(NODAL):c.*676C>T rs886047100
NM_018055.5(NODAL):c.*677C>T rs184218697
NM_018055.5(NODAL):c.*678G>A rs374692279
NM_018055.5(NODAL):c.*722G>C rs2279254
NM_018055.5(NODAL):c.*740T>C rs2279253
NM_018055.5(NODAL):c.*747dup rs886047099
NM_018055.5(NODAL):c.*836G>C rs886047098
NM_018055.5(NODAL):c.*886G>A rs58468830
NM_018055.5(NODAL):c.*887C>T rs553447349
NM_018055.5(NODAL):c.-9C>T rs756480830
NM_018055.5(NODAL):c.125C>T (p.Ala42Val) rs146471900
NM_018055.5(NODAL):c.193+12C>T rs10999338
NM_018055.5(NODAL):c.203T>C (p.Val68Ala) rs886047105
NM_018055.5(NODAL):c.216C>T (p.Asn72=) rs138195571
NM_018055.5(NODAL):c.221C>T (p.Thr74Met) rs886047104
NM_018055.5(NODAL):c.280C>T (p.Arg94Trp) rs778607015
NM_018055.5(NODAL):c.281G>A (p.Arg94Gln) rs146018217
NM_018055.5(NODAL):c.357C>T (p.Pro119=) rs77151171
NM_018055.5(NODAL):c.393G>C (p.Arg131=) rs765235855
NM_018055.5(NODAL):c.417C>T (p.Val139=) rs764201898
NM_018055.5(NODAL):c.494A>G (p.His165Arg) rs1904589
NM_018055.5(NODAL):c.514C>G (p.Gln172Glu) rs886047102
NM_018055.5(NODAL):c.550C>T (p.Pro184Ser) rs752979542
NM_018055.5(NODAL):c.588C>G (p.Leu196=) rs2231959
NM_018055.5(NODAL):c.593C>A (p.Ser198Tyr) rs377663429
NM_018055.5(NODAL):c.607G>A (p.Glu203Lys) rs10999334
NM_018055.5(NODAL):c.963G>A (p.Leu321=) rs772060498

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