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 gnomAD frequency
NM_000961.4(PTGIS):c.824G>A (p.Arg275Gln) rs61734270 0.00098
NM_003774.5(GALNT4):c.1194C>T (p.Asn398=) rs863223348 0.00001
NM_005529.7(HSPG2):c.4233C>T (p.Tyr1411=) rs745452577 0.00001
NM_015009.3(PDZRN3):c.820G>A (p.Asp274Asn) rs748809996 0.00001
NM_000210.4(ITGA6):c.*91AGA[1] rs863223349
NM_001035.3(RYR2):c.2236C>T (p.Gln746Ter) rs863223354
NM_001035.3(RYR2):c.2238A>C (p.Gln746His) rs863223355
NM_001040025.3(ARL16):c.-41G>T rs863223352
NM_002402.4(MEST):c.559C>T (p.Pro187Ser) rs863223353
NM_005685.4(GTF2IRD1):c.973C>T (p.Arg325Cys) rs863223350
NM_018249.5(CDK5RAP2):c.[280G>C];[3695A>G]
NM_021975.4(RELA):c.329T>C (p.Ile110Thr) rs863223356
NM_032538.3(TTBK1):c.773G>A (p.Arg258Gln) rs759748655
NM_138706.5(B3GNT6):c.552C>G (p.Asp184Glu) rs781821239
NM_144687.4(NLRP12):c.858C>G (p.Pro286=) rs145171629
NM_178860.5(SEZ6):c.678_686del (p.Thr227_Thr229del) rs863223347
NM_198993.5(STAC2):c.257G>A (p.Arg86Lys) rs863223351
NM_207361.6(FREM2):c.8351G>A (p.Arg2784Lys) rs863223346
NM_207370.4(GPR153):c.217C>T (p.Arg73Cys) rs776061422

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