ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001005361.3(DNM2):c.2543+7C>G rs201979143 0.00364
NM_001005361.3(DNM2):c.643G>A (p.Asp215Asn) rs145478270 0.00168
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.555C>T (p.Asp185=) rs140788791 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.552C>T (p.Ser184=) rs769028557 0.00002
NM_001005361.3(DNM2):c.2201A>G (p.Asn734Ser) rs577767034 0.00001
NM_001005361.3(DNM2):c.1134G>A (p.Glu378=)
NM_001005361.3(DNM2):c.1215C>T (p.Pro405=)
NM_001005361.3(DNM2):c.1236T>C (p.Ile412=)
NM_001005361.3(DNM2):c.2079C>T (p.His693=) rs777872270
NM_001005361.3(DNM2):c.2265C>G (p.Thr755=)
NM_001005361.3(DNM2):c.969C>T (p.Thr323=)

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