ClinVar Miner

List of variants reported as benign for autoimmune lymphoproliferative syndrome type 1 by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000043.6(FAS):c.642T>C (p.Thr214=) rs2234978 0.72086
NM_001141945.3(ACTA2):c.-24+733T>C rs1800682 0.54268
NC_000001.11:g.172658358C>T rs763110 0.49239
NM_000639.3(FASLG):c.147G>A (p.Pro49=) rs61756244 0.05080
NM_000043.6(FAS):c.46G>A (p.Ala16Thr) rs3218619 0.03995
NM_000043.6(FAS):c.222A>G (p.Thr74=) rs2229521 0.03925
NM_000043.6(FAS):c.141G>A (p.Gln47=) rs3218621 0.02156
NM_000043.6(FAS):c.505+16C>T rs3218620 0.01048
NM_000043.6(FAS):c.365C>T (p.Thr122Ile) rs3218614 0.00774
NM_000043.6(FAS):c.183G>A (p.Lys61=) rs3218613 0.00606
NM_000043.6(FAS):c.369G>A (p.Gln123=) rs28362318 0.00529
NM_000043.6(FAS):c.550A>G (p.Ile184Val) rs28362322 0.00324
NM_000639.3(FASLG):c.451+7A>G rs201525996 0.00210
NM_000043.6(FAS):c.33T>A (p.Val11=) rs113022949 0.00135
NM_000043.6(FAS):c.103T>C (p.Leu35=) rs9333296 0.00083
NM_000043.6(FAS):c.505+14T>G rs76988052 0.00038
NM_000639.3(FASLG):c.174G>A (p.Pro58=) rs372411796 0.00034
NM_000639.3(FASLG):c.259T>C (p.Phe87Leu) rs530390117 0.00030
NM_000639.3(FASLG):c.177G>A (p.Pro59=) rs559795993 0.00009
NM_000043.6(FAS):c.30+12C>T rs558072404 0.00001
NM_000043.6(FAS):c.30+19G>A rs202165529
NM_000043.6(FAS):c.444-5del rs751798922
NM_000043.6(FAS):c.444-5dup rs751798922
NM_000639.3(FASLG):c.394+13dup

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