ClinVar Miner

List of variants reported as likely pathogenic by Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_001530.4(HIF1A):c.1264G>T (p.Asp422Tyr) rs149348765 0.00218
NM_005896.4(IDH1):c.565A>G (p.Ile189Val) rs62193615 0.00054
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_019055.6(ROBO4):c.190C>T (p.Arg64Cys) rs201393279 0.00019
NM_001982.4(ERBB3):c.4009G>A (p.Ala1337Thr) rs755855285 0.00014
NM_019055.6(ROBO4):c.695C>T (p.Thr232Met) rs150700978 0.00009
NM_019055.6(ROBO4):c.283G>A (p.Ala95Thr) rs138370967 0.00006
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) rs200457227 0.00004
NM_019055.6(ROBO4):c.1702C>T (p.Arg568Ter) rs201492213 0.00004
NM_000256.3(MYBPC3):c.1243A>C (p.Ile415Leu) rs1269517446 0.00003
NM_000551.4(VHL):c.628C>T (p.Arg210Trp) rs774380450 0.00003
NM_019055.6(ROBO4):c.839A>C (p.Tyr280Ser) rs755747435 0.00003
NM_000551.4(VHL):c.538A>G (p.Ile180Val) rs377715747 0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His) rs121913500 0.00001
NM_019055.6(ROBO4):c.1864G>C (p.Asp622His) rs138111911 0.00001
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp) rs794728262
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu) rs370588279
NM_000551.4(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_001378183.1(PIEZO2):c.8395C>G (p.Arg2799Gly) rs587777451
NM_001530.4(HIF1A):c.1369G>A (p.Glu457Lys)
NM_001530.4(HIF1A):c.148G>C (p.Val50Leu)
NM_001530.4(HIF1A):c.1892G>A (p.Arg631His)
NM_001530.4(HIF1A):c.1961C>T (p.Ala654Val)
NM_001530.4(HIF1A):c.2075C>G (p.Ser692Cys)
NM_001530.4(HIF1A):c.644C>T (p.Pro215Leu)
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) rs267606631
NM_003482.4(KMT2D):c.11800C>T (p.Gln3934Ter) rs1555188469
NM_003482.4(KMT2D):c.12268C>T (p.Gln4090Ter) rs1555188155
NM_003482.4(KMT2D):c.1329_1332del (p.Pro444fs) rs587783689
NM_003482.4(KMT2D):c.14515+1G>T rs1555186232
NM_003482.4(KMT2D):c.15920_15921insT (p.Leu5308fs) rs1555185301
NM_003482.4(KMT2D):c.5124_5125del (p.Arg1709fs) rs886043506
NM_004004.6(GJB2):c.158G>T (p.Cys53Phe) rs587783645
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004586.3(RPS6KA3):c.1823T>G (p.Leu608Arg) rs2067342745
NM_005982.4(SIX1):c.416T>G (p.Leu139Arg) rs1895001312
NM_019055.6(ROBO4):c.1233T>A (p.His411Gln) rs1565326476
NM_019055.6(ROBO4):c.1601_1614del (p.Gly534fs) rs755569942
NM_019055.6(ROBO4):c.2056+1G>T rs764038221
NM_019055.6(ROBO4):c.2245_2246delinsCT (p.Ala749Leu) rs1565322176
NM_019055.6(ROBO4):c.740T>C (p.Val247Ala) rs779392207
NM_033360.4(KRAS):c.64C>A (p.Gln22Lys) rs121913236
NM_194248.3(OTOF):c.4490_4491del (p.Tyr1497fs) rs1558472243

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