ClinVar Miner

List of variants in gene HEPACAM reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_152722.5(HEPACAM):c.288A>C (p.Arg96=) rs36089266 0.00366
NM_152722.5(HEPACAM):c.1072G>A (p.Ala358Thr) rs536963649 0.00087
NM_152722.5(HEPACAM):c.862C>T (p.Arg288Cys) rs149782549 0.00052
NM_152722.5(HEPACAM):c.877+134G>A rs746394666 0.00035
NM_152722.5(HEPACAM):c.428-8C>T rs372037019 0.00029
NM_152722.5(HEPACAM):c.591C>T (p.Pro197=) rs201011094 0.00029
NM_152722.5(HEPACAM):c.1164G>A (p.Ser388=) rs551364697 0.00025
NM_152722.5(HEPACAM):c.1198G>A (p.Val400Met) rs770477104 0.00021
NM_152722.5(HEPACAM):c.1062C>T (p.Pro354=) rs780208452 0.00017
NM_152722.5(HEPACAM):c.1166G>A (p.Arg389His) rs372070386 0.00015
NM_152722.5(HEPACAM):c.803+8T>C rs374953883 0.00014
NM_152722.5(HEPACAM):c.299G>A (p.Arg100Gln) rs775135709 0.00007
NM_152722.5(HEPACAM):c.637G>A (p.Asp213Asn) rs766215764 0.00003
NM_152722.5(HEPACAM):c.1176G>A (p.Ser392=) rs1064797164 0.00001
NM_152722.5(HEPACAM):c.1012C>T (p.Pro338Ser)
NM_152722.5(HEPACAM):c.1086GCGCTCCCCAGC[1] (p.363RSPA[1]) rs984791128
NM_152722.5(HEPACAM):c.298C>T (p.Arg100Ter) rs1193449236
NM_152722.5(HEPACAM):c.587C>A (p.Ser196Tyr) rs387907049
NM_152722.5(HEPACAM):c.85+1G>A rs1555056722

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