ClinVar Miner

List of variants in gene MEN1 reported as pathogenic by Clinical Genetics and Genomics, Karolinska University Hospital

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter) rs104894267 0.00001
NM_001370259.2(MEN1):c.466G>A (p.Gly156Ser) rs1085307471 0.00001
NM_001370259.2(MEN1):c.1023G>A (p.Trp341Ter) rs1941717384
NM_001370259.2(MEN1):c.1183C>T (p.Gln395Ter) rs1941661404
NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn) rs104894264
NM_001370259.2(MEN1):c.1252G>C (p.Asp418His) rs104894264
NM_001370259.2(MEN1):c.1273G>T (p.Glu425Ter) rs1941613848
NM_001370259.2(MEN1):c.1546_1547dup (p.Lys517fs) rs1941527353
NM_001370259.2(MEN1):c.1548_1549del (p.Lys517fs) rs1941526116
NM_001370259.2(MEN1):c.1548del (p.Lys517fs) rs761695866
NM_001370259.2(MEN1):c.186dup (p.Phe63fs) rs1942006700
NM_001370259.2(MEN1):c.196_200dup (p.Asp70fs) rs1555166609
NM_001370259.2(MEN1):c.19C>T (p.Gln7Ter) rs1942027113
NM_001370259.2(MEN1):c.20A>C (p.Gln7Pro) rs1942026974
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs) rs587776841
NM_001370259.2(MEN1):c.312_315del (p.Leu105fs) rs1592658517
NM_001370259.2(MEN1):c.466G>T (p.Gly156Cys) rs1085307471
NM_001370259.2(MEN1):c.478G>C (p.Ala160Pro) rs1565648656
NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg) rs104894256
NM_001370259.2(MEN1):c.681C>A (p.Tyr227Ter) rs778921501
NM_001370259.2(MEN1):c.766C>T (p.Leu256Phe) rs878855198
NM_001370259.2(MEN1):c.795G>A (p.Trp265Ter) rs1592647398
NM_001370259.2(MEN1):c.823del (p.Arg275fs) rs1555165360
NM_001370259.2(MEN1):c.959C>G (p.Pro320Arg) rs1114167469
NM_001370259.2(MEN1):c.969C>A (p.Tyr323Ter) rs750904332

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