ClinVar Miner

List of variants in gene HAGHL

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_032304.4(HAGHL):c.827T>C (p.Leu276Pro) rs1027304689 0.00007
NM_032304.4(HAGHL):c.779C>T (p.Pro260Leu) rs778813123 0.00004
NM_032304.4(HAGHL):c.58G>A (p.Glu20Lys) rs755242305 0.00003
NM_032304.4(HAGHL):c.619G>A (p.Val207Met) rs369303595 0.00003
NM_032304.4(HAGHL):c.754G>A (p.Ala252Thr) rs1257737431 0.00002
NM_032304.4(HAGHL):c.509G>A (p.Cys170Tyr) rs1313641707 0.00001
NM_032304.4(HAGHL):c.641T>C (p.Leu214Pro) rs1246988633 0.00001
NM_032304.4(HAGHL):c.706G>A (p.Gly236Ser) rs1194601357 0.00001
NM_032304.4(HAGHL):c.758G>A (p.Arg253His) rs750025153 0.00001
NM_032304.4(HAGHL):c.129G>T (p.Glu43Asp)
NM_032304.4(HAGHL):c.133G>A (p.Val45Met)
NM_032304.4(HAGHL):c.137C>T (p.Ser46Phe)
NM_032304.4(HAGHL):c.146C>T (p.Ala49Val)
NM_032304.4(HAGHL):c.164A>G (p.His55Arg)
NM_032304.4(HAGHL):c.22G>C (p.Val8Leu) rs2544122531
NM_032304.4(HAGHL):c.325G>C (p.Gly109Arg)
NM_032304.4(HAGHL):c.514C>T (p.His172Tyr) rs777661176
NM_032304.4(HAGHL):c.539A>C (p.Glu180Ala) rs773681350
NM_032304.4(HAGHL):c.574G>A (p.Val192Met) rs755156372
NM_032304.4(HAGHL):c.592T>C (p.Trp198Arg)
NM_032304.4(HAGHL):c.593G>T (p.Trp198Leu)
NM_032304.4(HAGHL):c.643G>C (p.Gly215Arg)
NM_032304.4(HAGHL):c.649G>A (p.Glu217Lys) rs1420262296
NM_032304.4(HAGHL):c.718C>A (p.Pro240Thr) rs2544166682
NM_032304.4(HAGHL):c.721G>A (p.Ala241Thr)
NM_032304.4(HAGHL):c.721G>C (p.Ala241Pro)
NM_032304.4(HAGHL):c.727G>C (p.Val243Leu)
NM_032304.4(HAGHL):c.758G>C (p.Arg253Pro) rs750025153
NM_032304.4(HAGHL):c.796C>T (p.Arg266Trp)
NM_032304.4(HAGHL):c.829A>C (p.Ser277Arg)
NM_032304.4(HAGHL):c.836C>A (p.Ala279Asp) rs1376042262
NM_032304.4(HAGHL):c.841C>T (p.His281Tyr)
NM_032304.4(HAGHL):c.87C>A (p.Asp29Glu) rs759963866

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