ClinVar Miner

List of variants reported as benign for autoimmune lymphoproliferative syndrome type 2A by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_032977.4(CASP10):c.177A>G (p.Ser59=) rs3900115 0.49172
NM_032977.4(CASP10):c.1564T>A (p.Leu522Ile) rs13006529 0.42733
NM_032977.4(CASP10):c.923-3C>T rs6753900 0.06908
NM_032977.4(CASP10):c.1228G>A (p.Val410Ile) rs13010627 0.04350
NM_032977.4(CASP10):c.685-20C>T rs17860401 0.03338
NM_032977.4(CASP10):c.1337A>G (p.Tyr446Cys) rs17860405 0.02926
NM_032977.4(CASP10):c.1068G>T (p.Leu356=) rs111489269 0.00455
NM_032977.4(CASP10):c.1296C>T (p.Ala432=) rs41331850 0.00298
NM_032977.4(CASP10):c.1415+18T>A rs111608359 0.00274
NM_032977.4(CASP10):c.534A>C (p.Val178=) rs146233833 0.00226
NM_032977.4(CASP10):c.722-16G>T rs41500646 0.00121
NM_032977.4(CASP10):c.1502C>T (p.Pro501Leu) rs148939095 0.00091
NM_032977.4(CASP10):c.1415+16T>C rs201336330 0.00058
NM_032977.4(CASP10):c.666A>G (p.Thr222=) rs116125703 0.00013
NM_032977.4(CASP10):c.1415+18del
NM_032977.4(CASP10):c.1415+18dup rs749295497
NM_032977.4(CASP10):c.347+9G>T rs7608787
NM_032977.4(CASP10):c.348-16dup rs771877930
NM_032977.4(CASP10):c.923-12G>T rs201904750

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