ClinVar Miner

List of variants reported as likely benign for Neu-Laxova syndrome 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_058179.4(PSAT1):c.367A>G (p.Ile123Val) rs116577685 0.00213
NM_058179.4(PSAT1):c.884C>G (p.Pro295Arg) rs148080212 0.00105
NM_058179.4(PSAT1):c.445G>A (p.Val149Met) rs142975997 0.00056
NM_058179.4(PSAT1):c.795G>A (p.Ala265=) rs184256039 0.00034
NM_058179.4(PSAT1):c.393T>C (p.Tyr131=) rs370268538 0.00016
NM_058179.4(PSAT1):c.571-19A>T rs202227339 0.00014
NM_058179.4(PSAT1):c.916C>T (p.Arg306Cys) rs113824905 0.00011
NM_058179.4(PSAT1):c.162C>T (p.Asn54=) rs543844967 0.00010
NM_058179.4(PSAT1):c.468G>A (p.Thr156=) rs200962308 0.00010
NM_058179.4(PSAT1):c.571-6T>C rs376067862 0.00009
NM_058179.4(PSAT1):c.121+16G>A rs184944122 0.00007
NM_058179.4(PSAT1):c.122-9C>G rs1238498437 0.00004
NM_058179.4(PSAT1):c.231A>T (p.Gly77=) rs762436279 0.00004
NM_058179.4(PSAT1):c.291G>A (p.Arg97=) rs113759812 0.00004
NM_058179.4(PSAT1):c.792C>T (p.Ala264=) rs371935677 0.00004
NM_058179.4(PSAT1):c.240C>T (p.Cys80=) rs371446138 0.00003
NM_058179.4(PSAT1):c.740+10G>A rs553502763 0.00003
NM_058179.4(PSAT1):c.869+9A>G rs368990190 0.00003
NM_058179.4(PSAT1):c.1007+16A>G rs1385813794 0.00002
NM_058179.4(PSAT1):c.398-9C>G rs542270699 0.00002
NM_058179.4(PSAT1):c.447G>A (p.Val149=) rs745905648 0.00002
NM_058179.4(PSAT1):c.571-4T>A rs539694042 0.00002
NM_058179.4(PSAT1):c.60+8C>G rs753386884 0.00002
NM_058179.4(PSAT1):c.1005T>C (p.His335=) rs200973599 0.00001
NM_058179.4(PSAT1):c.1007+13G>A rs1057515672 0.00001
NM_058179.4(PSAT1):c.192-14A>C rs765489661 0.00001
NM_058179.4(PSAT1):c.225G>T (p.Leu75=) rs377756778 0.00001
NM_058179.4(PSAT1):c.261C>T (p.Pro87=) rs909218310 0.00001
NM_058179.4(PSAT1):c.270C>T (p.Leu90=) rs775726256 0.00001
NM_058179.4(PSAT1):c.33G>T (p.Gly11=) rs767502606 0.00001
NM_058179.4(PSAT1):c.369C>T (p.Ile123=) rs762328288 0.00001
NM_058179.4(PSAT1):c.456C>T (p.Cys152=) rs376944831 0.00001
NM_058179.4(PSAT1):c.498C>T (p.Pro166=) rs746877540 0.00001
NM_058179.4(PSAT1):c.516A>G (p.Val172=) rs749688642 0.00001
NM_058179.4(PSAT1):c.570+13A>G rs962259327 0.00001
NM_058179.4(PSAT1):c.813C>T (p.Ser271=) rs747711253 0.00001
NM_058179.4(PSAT1):c.867C>T (p.Tyr289=) rs189310401 0.00001
NM_058179.4(PSAT1):c.870-16T>C rs746255855 0.00001
NM_058179.4(PSAT1):c.879G>A (p.Val293=) rs762084954 0.00001
NM_058179.4(PSAT1):c.1002G>A (p.Gly334=)
NM_058179.4(PSAT1):c.1007+11C>T
NM_058179.4(PSAT1):c.1007+12T>G
NM_058179.4(PSAT1):c.1008-16T>C
NM_058179.4(PSAT1):c.1008-17A>G
NM_058179.4(PSAT1):c.1008-18G>C
NM_058179.4(PSAT1):c.1008-7A>G
NM_058179.4(PSAT1):c.1020C>T (p.Gly340=)
NM_058179.4(PSAT1):c.1026G>A (p.Arg342=)
NM_058179.4(PSAT1):c.1050A>G (p.Thr350=)
NM_058179.4(PSAT1):c.1071G>A (p.Leu357=)
NM_058179.4(PSAT1):c.108C>T (p.Gly36=)
NM_058179.4(PSAT1):c.1110A>C (p.Leu370=)
NM_058179.4(PSAT1):c.122-15T>C
NM_058179.4(PSAT1):c.122-9_122-5del
NM_058179.4(PSAT1):c.135G>A (p.Arg45=)
NM_058179.4(PSAT1):c.150C>T (p.Ala50=)
NM_058179.4(PSAT1):c.177T>A (p.Leu59=)
NM_058179.4(PSAT1):c.191+20A>G rs2118628355
NM_058179.4(PSAT1):c.191+8T>A
NM_058179.4(PSAT1):c.192-16C>G
NM_058179.4(PSAT1):c.192-17C>T
NM_058179.4(PSAT1):c.198T>A (p.Val66=) rs2118637091
NM_058179.4(PSAT1):c.267C>T (p.Asn89=)
NM_058179.4(PSAT1):c.270C>G (p.Leu90=) rs775726256
NM_058179.4(PSAT1):c.294T>C (p.Cys98=)
NM_058179.4(PSAT1):c.297T>A (p.Ala99=) rs3739474
NM_058179.4(PSAT1):c.324A>C (p.Ser108=)
NM_058179.4(PSAT1):c.333C>T (p.Ala111=)
NM_058179.4(PSAT1):c.357G>A (p.Gly119=)
NM_058179.4(PSAT1):c.398-12C>T rs1217607470
NM_058179.4(PSAT1):c.398-19A>G rs1828181631
NM_058179.4(PSAT1):c.435T>C (p.Asp145=)
NM_058179.4(PSAT1):c.444C>T (p.Tyr148=)
NM_058179.4(PSAT1):c.49C>T (p.Leu17=)
NM_058179.4(PSAT1):c.501T>C (p.Asp167=)
NM_058179.4(PSAT1):c.543C>T (p.Phe181=)
NM_058179.4(PSAT1):c.546G>A (p.Leu182=) rs772396082
NM_058179.4(PSAT1):c.54G>A (p.Pro18=) rs763694865
NM_058179.4(PSAT1):c.54G>T (p.Pro18=)
NM_058179.4(PSAT1):c.571-11C>G rs1828215906
NM_058179.4(PSAT1):c.571-15C>A
NM_058179.4(PSAT1):c.60+10C>T
NM_058179.4(PSAT1):c.60+20C>A rs2118610712
NM_058179.4(PSAT1):c.60+9C>G rs2118610658
NM_058179.4(PSAT1):c.600G>A (p.Lys200=)
NM_058179.4(PSAT1):c.61-17C>G rs1420720400
NM_058179.4(PSAT1):c.618G>A (p.Gly206=)
NM_058179.4(PSAT1):c.624C>G (p.Thr208=) rs140723816
NM_058179.4(PSAT1):c.624C>T (p.Thr208=)
NM_058179.4(PSAT1):c.645C>T (p.Asp215=)
NM_058179.4(PSAT1):c.649C>T (p.Leu217=)
NM_058179.4(PSAT1):c.660C>G (p.Ala220=)
NM_058179.4(PSAT1):c.669G>A (p.Glu223=) rs2118651074
NM_058179.4(PSAT1):c.687A>G (p.Glu229=)
NM_058179.4(PSAT1):c.720C>T (p.Tyr240=) rs2118651460
NM_058179.4(PSAT1):c.726G>T (p.Thr242=)
NM_058179.4(PSAT1):c.741-18_741-17delinsAC rs2118681211
NM_058179.4(PSAT1):c.741-19_741-18insA
NM_058179.4(PSAT1):c.741-7A>C rs747801091
NM_058179.4(PSAT1):c.741-7A>G rs747801091
NM_058179.4(PSAT1):c.741-8C>G
NM_058179.4(PSAT1):c.747C>T (p.Tyr249=)
NM_058179.4(PSAT1):c.762T>C (p.Val254=)
NM_058179.4(PSAT1):c.816C>T (p.Ser272=)
NM_058179.4(PSAT1):c.831A>G (p.Thr277=) rs1462773959
NM_058179.4(PSAT1):c.861A>T (p.Gly287=)
NM_058179.4(PSAT1):c.869+11G>A
NM_058179.4(PSAT1):c.869+12G>C
NM_058179.4(PSAT1):c.869+8A>C
NM_058179.4(PSAT1):c.870-15A>G
NM_058179.4(PSAT1):c.912A>G (p.Pro304=)
NM_058179.4(PSAT1):c.957A>G (p.Arg319=)
NM_058179.4(PSAT1):c.99A>G (p.Lys33=)
NM_058179.4(PSAT1):c.9C>T (p.Ala3=) rs2118610369

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