ClinVar Miner

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

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Total variants: 24
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HGVS dbSNP
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) rs200457227
NM_000441.1(SLC26A4):c.269C>T (p.Ser90Leu) rs370588279
NM_001301088.1(ROBO4):c.1621+1G>T rs764038221
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) rs267606631
NM_001982.3(ERBB3):c.4009G>A (p.Ala1337Thr) rs755855285
NM_003482.3(KMT2D):c.11800C>T (p.Gln3934Ter) rs1555188469
NM_003482.3(KMT2D):c.12268C>T (p.Gln4090Ter) rs1555188155
NM_003482.3(KMT2D):c.1329_1332del (p.Pro444Argfs) rs587783689
NM_003482.3(KMT2D):c.14515+1G>T rs1555186232
NM_003482.3(KMT2D):c.15920_15921insT (p.Leu5308Thrfs) rs1555185301
NM_003482.3(KMT2D):c.5124_5125del (p.Arg1709Hisfs) rs886043506
NM_004004.6(GJB2):c.158G>T (p.Cys53Phe)
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_019055.5(ROBO4):c.1233T>A (p.His411Gln)
NM_019055.5(ROBO4):c.1601_1614del (p.Gly534Glufs)
NM_019055.5(ROBO4):c.1702C>T (p.Arg568Ter) rs201492213
NM_019055.5(ROBO4):c.1864G>C (p.Asp622His) rs138111911
NM_019055.5(ROBO4):c.190C>T (p.Arg64Cys) rs201393279
NM_019055.5(ROBO4):c.2245_2246delGCinsCT (p.Ala749Leu)
NM_019055.5(ROBO4):c.283G>A (p.Ala95Thr) rs138370967
NM_019055.5(ROBO4):c.695C>T (p.Thr232Met) rs150700978
NM_019055.5(ROBO4):c.740T>C (p.Val247Ala) rs779392207
NM_019055.5(ROBO4):c.839A>C (p.Tyr280Ser) rs755747435
NM_194323.2:c.2189_2190del

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