ClinVar Miner

List of variants reported as likely pathogenic by Dr. Guy Rouleau's laboratory,McGill University

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Total variants: 19
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HGVS dbSNP
NM_000961.3(PTGIS):c.824G>A (p.Arg275Gln) rs61734270
NM_001035.2(RYR2):c.2236C>T (p.Gln746Ter) rs863223354
NM_001035.2(RYR2):c.2238A>C (p.Gln746His) rs863223355
NM_001040025.2(ARL16):c.32G>T (p.Arg11Leu) rs863223352
NM_001079818.2(ITGA6):c.3186_3188delAGA (p.Glu1063del) rs863223349
NM_001199207.1(GTF2IRD1):c.1069C>T (p.Arg357Cys) rs863223350
NM_001199781.1(POC1B-GALNT4):c.1185C>T (p.Asn395=) rs863223348
NM_001277126.1(NLRP12):c.858C>G (p.Pro286=) rs145171629
NM_005529.6(HSPG2):c.4233C>T (p.Tyr1411=) rs745452577
NM_015009.2(PDZRN3):c.820G>A (p.Asp274Asn) rs748809996
NM_018249.5(CDK5RAP2):c.[280G>C];[3695A>G]
NM_021975.3(RELA):c.329T>C (p.Ile110Thr) rs863223356
NM_032538.2(TTBK1):c.773G>A (p.Arg258Gln) rs759748655
NM_138706.4(B3GNT6):c.552C>G (p.Asp184Glu) rs781821239
NM_177524.2(MEST):c.532C>T (p.Pro178Ser) rs863223353
NM_178860.4(SEZ6):c.678_686del (p.Thr227_Thr229del) rs863223347
NM_198993.4(STAC2):c.257G>A (p.Arg86Lys) rs863223351
NM_207361.5(FREM2):c.8351G>A (p.Arg2784Lys) rs863223346
NM_207370.3(GPR153):c.217C>T (p.Arg73Cys) rs776061422

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