ClinVar Miner

List of variants reported as likely pathogenic by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 30
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HGVS dbSNP
NM_000061.2(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000071.2(CBS):c.828+1G>A rs763290176
NM_000135.4(FANCA):c.189+1G>A rs891323617
NM_000138.4(FBN1):c.4049G>T (p.Cys1350Phe) rs1555397718
NM_000138.4(FBN1):c.4460-8G>A rs193922204
NM_000138.4(FBN1):c.5546-1G>A rs1566899590
NM_000138.4(FBN1):c.6183T>A (p.Cys2061Ter) rs71467648
NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.4(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg) rs113543334
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg) rs137852618
NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys) rs137852294
NM_000368.4(TSC1):c.1033del (p.Thr345fs) rs1564488264
NM_000448.2(RAG1):c.2348C>G (p.Ser783Ter)
NM_000544.3(TAP2):c.217_218del (p.Thr73fs) rs1321880935
NM_000548.5(TSC2):c.225+1G>A rs1567387207
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001130966.4(TBXAS1):c.1417G>T (p.Gly473Trp) rs149988492
NM_001184880.2(PCDH19):c.707C>T (p.Pro236Leu) rs1060502176
NM_001271.4(CHD2):c.361C>T (p.Arg121Ter) rs397514740
NM_001323289.2(CDKL5):c.1147_1151del (p.Thr383fs) rs1569219331
NM_001364905.1(LRBA):c.6445_6446AG[1] (p.Arg2149fs) rs1561254290
NM_001999.4(FBN2):c.3514G>T (p.Gly1172Cys) rs138303817
NM_002693.2(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_003239.4(TGFB3):c.927-1G>C rs767548724
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter) rs200053119
NM_015192.4(PLCB1):c.2036_2039del (p.Ser679fs) rs1568577135
NM_030984.5(TBXAS1):c.580_581del (p.Ala194fs) rs760698812
NM_145239.3(PRRT2):c.304del (p.Glu102fs) rs1567379016
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219

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