ClinVar Miner

List of variants in gene MEN1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_001370259.2(MEN1):c.1050-163T>C rs115859693 0.00415
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=) rs138770431 0.00119
NM_001370259.2(MEN1):c.30G>T (p.Leu10=) rs371192390 0.00111
NM_001370259.2(MEN1):c.-22C>A rs374749001 0.00073
NM_001370259.2(MEN1):c.1049+9C>T rs200517349 0.00048
NM_001370259.2(MEN1):c.18C>T (p.Ala6=) rs369348210 0.00039
NM_001370259.2(MEN1):c.762G>A (p.Leu254=) rs199909967 0.00018
NM_001370259.2(MEN1):c.1080C>T (p.Ile360=) rs147331514 0.00016
NM_001370259.2(MEN1):c.1351-4C>T rs764408631 0.00014
NM_001370259.2(MEN1):c.913-42G>C rs529037188 0.00013
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) rs745404679 0.00012
NM_001370259.2(MEN1):c.1032G>A (p.Thr344=) rs760183888 0.00005
NM_001370259.2(MEN1):c.1401C>T (p.Ala467=) rs878855190 0.00004
NM_001370259.2(MEN1):c.525C>T (p.Leu175=) rs200155578 0.00003
NM_001370259.2(MEN1):c.1155G>A (p.Ala385=) rs201091135 0.00002
NM_001370259.2(MEN1):c.1026G>A (p.Ala342=) rs878855184 0.00001
NM_001370259.2(MEN1):c.1392G>A (p.Ala464=) rs754445482 0.00001
NM_001370259.2(MEN1):c.1404G>A (p.Glu468=) rs755734265 0.00001
NM_001370259.2(MEN1):c.219C>T (p.Gly73=) rs758434243 0.00001
NM_001370259.2(MEN1):c.300C>G (p.Ala100=) rs773136972 0.00001
NM_001370259.2(MEN1):c.681C>T (p.Tyr227=) rs778921501 0.00001
NM_001370259.2(MEN1):c.*126C>T rs138595686
NM_001370259.2(MEN1):c.1049+229A>G
NM_001370259.2(MEN1):c.1050-138C>T
NM_001370259.2(MEN1):c.1050-180C>T
NM_001370259.2(MEN1):c.1050-216C>T
NM_001370259.2(MEN1):c.1064G>A (p.Arg355Gln) rs1114167474
NM_001370259.2(MEN1):c.1206C>A (p.Ser402=) rs770037856
NM_001370259.2(MEN1):c.1255G>A (p.Gly419Ser)
NM_001370259.2(MEN1):c.1401C>G (p.Ala467=)
NM_001370259.2(MEN1):c.1546dup (p.Arg516fs) rs767319284
NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter) rs104894261
NM_001370259.2(MEN1):c.1648G>C (p.Val550Leu) rs562257963
NM_001370259.2(MEN1):c.1740G>T (p.Thr580=)
NM_001370259.2(MEN1):c.504G>A (p.Leu168=) rs1941867763
NM_001370259.2(MEN1):c.601A>T (p.Lys201Ter) rs1941854974
NM_001370259.2(MEN1):c.615C>T (p.Asp205=) rs1941854403
NM_001370259.2(MEN1):c.655-5del rs772016629
NM_001370259.2(MEN1):c.655-6C>A rs77461664
NM_001370259.2(MEN1):c.655-6C>T rs77461664
NM_001370259.2(MEN1):c.732C>G (p.Asn244Lys)
NM_001370259.2(MEN1):c.818T>C (p.Leu273Pro) rs1592647281

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