ClinVar Miner

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

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001005361.3(DNM2):c.2592C>T (p.Ala864=) rs373161548 0.00011
NM_001005361.3(DNM2):c.633C>T (p.Asp211=) rs200191870 0.00009
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.1090C>T (p.Arg364Cys) rs1568304333
NM_001005361.3(DNM2):c.1196+658C>T rs1599569966
NM_001005361.3(DNM2):c.1252G>A (p.Val418Ile)
NM_001005361.3(DNM2):c.1547G>A (p.Gly516Glu) rs1599595311
NM_001005361.3(DNM2):c.1582A>G (p.Ile528Val)
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

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