ClinVar Miner

List of variants in gene LMNA reported as uncertain significance by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_170707.4(LMNA):c.692A>G (p.Asn231Ser) rs760388350 0.00004
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser) rs886045364 0.00002
NM_170707.4(LMNA):c.1488G>C (p.Thr496=) rs375516745
NM_170707.4(LMNA):c.1678G>A (p.Asp560Asn) rs1651791067
NM_170707.4(LMNA):c.937-5T>C rs1001248677

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