ClinVar Miner

List of variants reported as likely pathogenic by CHU Sainte-Justine Research Center,University of Montreal

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Total variants: 47
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HGVS dbSNP
NM_000965.4(RARB):c.638T>C (p.Leu213Pro) rs869025222
NM_000965.4(RARB):c.887G>C (p.Gly296Ala) rs869025221
NM_001005271.3(CHD3):c.3130C>T (p.Arg1044Trp) rs1555611722
NM_001005273.2(CHD3):c.1369G>T (p.Glu457Ter) rs1567844992
NM_001005273.2(CHD3):c.2657A>G (p.His886Arg) rs1567855081
NM_001005273.2(CHD3):c.2745G>T (p.Leu915Phe) rs1567855669
NM_001005273.2(CHD3):c.2761G>A (p.Glu921Lys) rs1567855704
NM_001005273.2(CHD3):c.2882G>A (p.Gly961Glu) rs1567856045
NM_001005273.2(CHD3):c.2954G>A (p.Arg985Gln) rs1567856331
NM_001005273.2(CHD3):c.3325_3327del rs1567859975
NM_001005273.2(CHD3):c.3357_3358delinsTC (p.Asp1120His) rs1567860075
NM_001005273.2(CHD3):c.3362G>C (p.Arg1121Pro) rs1567860112
NM_001005273.2(CHD3):c.3407C>T (p.Thr1136Ile) rs1567860640
NM_001005273.2(CHD3):c.3472T>C (p.Trp1158Arg) rs1567860891
NM_001005273.2(CHD3):c.3482A>G (p.His1161Arg) rs1567860919
NM_001005273.2(CHD3):c.3505C>T (p.Arg1169Trp) rs1567861468
NM_001005273.2(CHD3):c.3512A>G (p.His1171Arg) rs1567861489
NM_001005273.2(CHD3):c.3515G>A (p.Arg1172Gln) rs1567861501
NM_001005273.2(CHD3):c.3560G>C (p.Arg1187Pro) rs1567861571
NM_001005273.2(CHD3):c.3707T>C (p.Leu1236Pro) rs1567861894
NM_001005273.2(CHD3):c.4025G>A (p.Arg1342Gln) rs1567863732
NM_001005273.2(CHD3):c.4073-2A>G rs1567864750
NM_001005273.2(CHD3):c.5642G>T (p.Arg1881Leu) rs1567877108
NM_001005273.2(CHD3):c.5802_5803insGAAC (p.Phe1935fs) rs1567878511
NM_004321.7(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_004321.7(KIF1A):c.305G>A (p.Gly102Asp) rs672601363
NM_004321.7(KIF1A):c.430G>T (p.Val144Phe) rs672601364
NM_004321.7(KIF1A):c.499C>T (p.Arg167Cys) rs672601365
NM_004321.7(KIF1A):c.604G>C (p.Ala202Pro) rs672601366
NM_004321.7(KIF1A):c.643A>C (p.Ser215Arg) rs672601367
NM_004321.7(KIF1A):c.647G>C (p.Arg216Pro) rs672601368
NM_004321.7(KIF1A):c.746T>A (p.Leu249Gln) rs672601371
NM_004321.7(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_005852.4(CHD3):c.3477C>A (p.Asn1159Lys)
NM_023110.3(FGFR1):c.2460dup (p.Arg821fs)
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln) rs786201003
NM_212482.3(FN1):c.2422_2424ACA[1] (p.Thr809del) rs1553636502
NM_212482.3(FN1):c.260G>T (p.Cys87Phe) rs1553669703
NM_212482.3(FN1):c.367T>C (p.Cys123Arg) rs1553667072
NM_212482.3(FN1):c.368G>A (p.Cys123Tyr) rs1559616744
NM_212482.3(FN1):c.506G>A (p.Cys169Tyr) rs1559609410
NM_212482.3(FN1):c.638G>A (p.Cys213Tyr) rs1559604072
NM_212482.3(FN1):c.675C>G (p.Cys225Trp) rs1181638652
NM_212482.3(FN1):c.693C>G (p.Cys231Trp) rs1064795155
NM_212482.3(FN1):c.718T>G (p.Tyr240Asp) rs1553659131
NM_212482.3(FN1):c.773G>A (p.Cys258Tyr) rs1553658948
NM_212482.3(FN1):c.778T>G (p.Cys260Gly) rs1553658926

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