ClinVar Miner

List of variants in gene DNM2 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001005361.3(DNM2):c.235+12C>A rs147026993 0.00953
NM_001005361.3(DNM2):c.2543+7C>G rs201979143 0.00364
NM_001005361.3(DNM2):c.236-8C>G rs143084059 0.00361
NM_001005361.3(DNM2):c.519T>C (p.Ala173=) rs77702567 0.00359
NM_001005361.3(DNM2):c.643G>A (p.Asp215Asn) rs145478270 0.00168
NM_001005361.3(DNM2):c.2160C>T (p.Asp720=) rs117598326 0.00163
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=) rs2229919 0.00149
NM_001005361.3(DNM2):c.238C>T (p.His80Tyr) rs148790687 0.00123
NM_001005361.3(DNM2):c.1218C>T (p.Asp406=) rs147668465 0.00116
NM_001005361.3(DNM2):c.645C>T (p.Asp215=) rs148900299 0.00028
NM_001005361.3(DNM2):c.2511G>A (p.Arg837=) rs200100669 0.00027
NM_001005361.3(DNM2):c.822G>A (p.Thr274=) rs201763720 0.00014
NM_001005361.3(DNM2):c.2592C>T (p.Ala864=) rs373161548 0.00011
NM_001005361.3(DNM2):c.555C>T (p.Asp185=) rs140788791 0.00009
NM_001005361.3(DNM2):c.633C>T (p.Asp211=) rs200191870 0.00009
NM_001005361.3(DNM2):c.666C>T (p.Asn222=) rs2229921 0.00008
NM_001005361.3(DNM2):c.1196+628G>C rs374376619 0.00006
NM_001005361.3(DNM2):c.1782-4G>A rs767424969 0.00006
NM_001005361.3(DNM2):c.1965C>T (p.Thr655=) rs201972896 0.00005
NM_001005361.3(DNM2):c.1456A>G (p.Ile486Val) rs758246840 0.00004
NM_001005361.3(DNM2):c.1786G>A (p.Val596Ile) rs763762422 0.00002
NM_001005361.3(DNM2):c.552C>T (p.Ser184=) rs769028557 0.00002
NM_001005361.3(DNM2):c.2201A>G (p.Asn734Ser) rs577767034 0.00001
NM_001005361.3(DNM2):c.1090C>T (p.Arg364Cys) rs1568304333
NM_001005361.3(DNM2):c.1134G>A (p.Glu378=)
NM_001005361.3(DNM2):c.1196+658C>T rs1599569966
NM_001005361.3(DNM2):c.1215C>T (p.Pro405=)
NM_001005361.3(DNM2):c.1236T>C (p.Ile412=)
NM_001005361.3(DNM2):c.1252G>A (p.Val418Ile)
NM_001005361.3(DNM2):c.1547G>A (p.Gly516Glu) rs1599595311
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001005361.3(DNM2):c.1582A>G (p.Ile528Val)
NM_001005361.3(DNM2):c.1609G>A (p.Gly537Ser) rs121909093
NM_001005361.3(DNM2):c.2079C>T (p.His693=) rs777872270
NM_001005361.3(DNM2):c.2265C>G (p.Thr755=)
NM_001005361.3(DNM2):c.2332C>T (p.Pro778Ser) rs774220956
NM_001005361.3(DNM2):c.2435G>A (p.Arg812Gln) rs1285468865
NM_001005361.3(DNM2):c.961G>A (p.Asp321Asn) rs745794161
NM_001005361.3(DNM2):c.969C>T (p.Thr323=)

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