ClinVar Miner

List of variants reported as likely pathogenic by Institute for Human Genetics, University Hospital Essen

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_015557.3(CHD5):c.5141A>G (p.Glu1714Gly) rs781200968 0.00001
NM_006940.6(SOX5):c.1712G>T (p.Arg571Leu) rs773832380
NM_006940.6(SOX5):c.1868A>G (p.Tyr623Cys) rs1591833159
NM_006950.3(SYN1):c.954G>T (p.Lys318Asn)
NM_006950.3(SYN1):c.986C>T (p.Thr329Met) rs2057777813
NM_013275.6(ANKRD11):c.1711_1723del (p.Thr571fs) rs2151763044
NM_013275.6(ANKRD11):c.7411_7422del (p.Thr2471_Gly2474del) rs2151729118
NM_013275.6(ANKRD11):c.7470+2T>C rs2151728875
NM_015557.3(CHD5):c.1279G>A (p.Glu427Lys) rs2100863089
NM_015557.3(CHD5):c.1786C>T (p.Arg596Ter) rs2100860639
NM_015557.3(CHD5):c.2735C>T (p.Ser912Phe) rs1474624774
NM_015557.3(CHD5):c.3250G>A (p.Asp1084Asn) rs760743983
NM_015557.3(CHD5):c.3371C>T (p.Pro1124Leu) rs2100847449
NM_015557.3(CHD5):c.3407G>A (p.Arg1136His) rs1162494442
NM_015557.3(CHD5):c.3419A>T (p.Asn1140Ile) rs2100846484
NM_015557.3(CHD5):c.4079-3C>G rs1434726192
NM_015557.3(CHD5):c.4171+1G>C rs2100843382
NM_015557.3(CHD5):c.4257C>G (p.Ile1419Met) rs371488822
NM_015557.3(CHD5):c.4463A>T (p.Asp1488Val) rs2100842233
NM_015557.3(CHD5):c.577C>T (p.Arg193Trp) rs1571164162
NM_015557.3(CHD5):c.578G>A (p.Arg193Gln) rs1667056923
NM_015557.3(CHD5):c.612dup (p.Ser205fs) rs2100868745
NM_015557.3(CHD5):c.940G>T (p.Glu314Ter) rs754586094
NM_021614.4(KCNN2):c.1498_1499delinsTC (p.Ile500Ser) rs1758880343
NM_021614.4(KCNN2):c.1718A>G (p.Tyr573Cys) rs1761282515
NM_021614.4(KCNN2):c.1890+2T>C rs1761825165

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