ClinVar Miner

List of variants in gene EPB41L1 studied for intellectual disability, autosomal dominant 11

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_012156.2(EPB41L1):c.1661C>A (p.Ala554Asp) rs778642222 0.00004
NM_012156.2(EPB41L1):c.2207T>C (p.Val736Ala) rs766068292 0.00002
NM_001258329.1(EPB41L1):c.-15+11729G>A rs2147709505
NM_001258330.1(EPB41L1):c.17G>A (p.Arg6Lys)
NM_012156.2(EPB41L1):c.1026+4A>G
NM_012156.2(EPB41L1):c.130T>C (p.Ser44Pro) rs2145899366
NM_012156.2(EPB41L1):c.1807C>T (p.Arg603Cys)
NM_012156.2(EPB41L1):c.1844G>C (p.Ser615Thr) rs1569330133
NM_012156.2(EPB41L1):c.1892G>T (p.Ser631Ile) rs2063022720
NM_012156.2(EPB41L1):c.1982T>C (p.Leu661Pro)
NM_012156.2(EPB41L1):c.2557C>T (p.His853Tyr)
NM_012156.2(EPB41L1):c.2560C>T (p.Pro854Ser) rs1569376434

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