ClinVar Miner

List of variants reported as likely pathogenic by Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre

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Total variants: 8
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NM_000432.3(MYL2):c.3G>A (p.Met1Ile) rs1555258369
NM_001458.4(FLNC):c.3547_3548delinsCT (p.Ala1183Leu) rs1131692185
NM_001458.4(FLNC):c.3557C>T (p.Ala1186Val) rs1114167361
NM_001458.4(FLNC):c.6892C>T (p.Pro2298Ser) rs1554401403
NM_004415.4(DSP):c.5051A>G (p.His1684Arg) rs1135401735
NM_005188.3(CBL):c.1754G>T (p.Arg585Leu) rs727504640
NM_032578.3(MYPN):c.458A>G (p.Lys153Arg) rs199476401
NM_170707.4(LMNA):c.234G>T (p.Lys78Asn) rs727505038

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