ClinVar Miner

List of variants reported as uncertain significance for LEOPARD syndrome 2

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_002880.4(RAF1):c.-201C>A rs532668125 0.00073
NM_002880.4(RAF1):c.-209G>A rs727504351 0.00035
NM_002880.4(RAF1):c.-181T>C rs886057920 0.00022
NM_002880.4(RAF1):c.124G>A (p.Ala42Thr) rs200856000 0.00021
NM_002880.4(RAF1):c.*113T>G rs886057914 0.00015
NM_002880.4(RAF1):c.*627C>T rs879160471 0.00009
NM_002880.4(RAF1):c.*630A>G rs975583754 0.00009
NM_002880.4(RAF1):c.834+598G>A rs375404697 0.00009
NM_002880.4(RAF1):c.-264C>G rs894363344 0.00008
NM_002880.4(RAF1):c.1814C>T (p.Ser605Phe) rs730881004 0.00006
NM_002880.4(RAF1):c.-53G>A rs985291322 0.00005
NM_002880.3(RAF1):c.-354C>G rs964288487 0.00004
NM_002880.4(RAF1):c.*643C>G rs932173134 0.00004
NM_002880.4(RAF1):c.-110G>A rs886057917 0.00003
NM_002880.4(RAF1):c.600T>C (p.Thr200=) rs779808613 0.00003
NM_002880.4(RAF1):c.*647G>T rs1457071879 0.00002
NM_002880.4(RAF1):c.*706C>T rs1466261579 0.00002
NM_002880.4(RAF1):c.*410A>G rs1055682241 0.00001
NM_002880.4(RAF1):c.*73T>A rs932588742 0.00001
NM_002880.4(RAF1):c.-27+7G>A rs886057916 0.00001
NM_002880.4(RAF1):c.31A>T (p.Ile11Phe) rs779001930 0.00001
NM_002880.4(RAF1):c.482A>G (p.Asn161Ser) rs775781057 0.00001
NM_002880.4(RAF1):c.601A>G (p.Ile201Val) rs757700986 0.00001
NM_002880.4(RAF1):c.654A>G (p.Arg218=) rs898490426 0.00001
NM_002880.4(RAF1):c.933C>T (p.Pro311=) rs1553613022 0.00001
NC_000003.12:g.12589035_12766981dup
NM_002880.4(RAF1):c.*120C>A rs1575528605
NM_002880.4(RAF1):c.*162T>C rs886057913
NM_002880.4(RAF1):c.*628G>T rs374944110
NM_002880.4(RAF1):c.*640T>C rs759464247
NM_002880.4(RAF1):c.-107C>T rs1451879607
NM_002880.4(RAF1):c.-139T>G rs886057918
NM_002880.4(RAF1):c.-146C>G rs886057919
NM_002880.4(RAF1):c.-204G>C rs547543588
NM_002880.4(RAF1):c.-59C>G rs201603517
NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu) rs730880382
NM_002880.4(RAF1):c.1292A>C (p.Lys431Thr) rs747632183
NM_002880.4(RAF1):c.1463G>A (p.Gly488Asp) rs865862568
NM_002880.4(RAF1):c.161C>A (p.Thr54Lys) rs754798801
NM_002880.4(RAF1):c.1770G>C (p.Lys590Asn) rs773583951
NM_002880.4(RAF1):c.1867C>T (p.Pro623Ser) rs373596121
NM_002880.4(RAF1):c.1922C>G (p.Thr641Arg) rs587777587
NM_002880.4(RAF1):c.21T>C (p.Ala7=) rs886057915
NM_002880.4(RAF1):c.226A>G (p.Met76Val) rs730880999
NM_002880.4(RAF1):c.231C>T (p.Ser77=) rs1450510914
NM_002880.4(RAF1):c.332G>A (p.Arg111His) rs996417348
NM_002880.4(RAF1):c.438C>A (p.Phe146Leu) rs794727717
NM_002880.4(RAF1):c.843T>A (p.Ile281=) rs2058826353
NM_014160.5(MKRN2):c.*1420G>A rs1461713213
NM_014160.5(MKRN2):c.*1421T>A rs2058212896

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