ClinVar Miner

Variants in gene DNM2 with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 16
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HGVS dbSNP gnomAD frequency
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp) rs121909090 0.00001
NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg) rs267606772
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys) rs121909092
NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln) rs121909089
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001005361.3(DNM2):c.1609G>T (p.Gly537Cys) rs121909093
NM_001005361.3(DNM2):c.1664_1671+1del rs1568314339
NM_001005361.3(DNM2):c.1681AAG[1] (p.Lys562del) rs1599620408
NM_001005361.3(DNM2):c.1709T>A (p.Leu570His) rs121909094
NM_001005361.3(DNM2):c.1739T>C (p.Met580Thr) rs1269225724
NM_001005361.3(DNM2):c.1852G>A (p.Ala618Thr) rs773598203
NM_001005361.3(DNM2):c.1853C>A (p.Ala618Asp) rs1555715869
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001005361.3(DNM2):c.1862T>C (p.Leu621Pro) rs587783597
NM_001005361.3(DNM2):c.1948G>A (p.Glu650Lys) rs2073098775

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