ClinVar Miner

List of variants in gene LMNA reported as benign for Charcot-Marie-Tooth disease type 2

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.22862
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_170707.4(LMNA):c.1157+16G>A rs534807 0.17703
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_170707.4(LMNA):c.1158-44C>T rs141879453 0.00929
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_170707.4(LMNA):c.1761G>A (p.Leu587=) rs80356813 0.00210
NM_170707.4(LMNA):c.1851C>T (p.Ala617=) rs143189394 0.00158
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_170707.4(LMNA):c.640-52C>T rs41314033 0.00088
NM_170707.4(LMNA):c.1489-16C>G rs201379016 0.00077
NM_170707.4(LMNA):c.1911C>T (p.Phe637=) rs117939448 0.00048
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812 0.00029
NM_170707.4(LMNA):c.1017G>A (p.Ala339=) rs17847242 0.00021
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603 0.00006
NM_170707.4(LMNA):c.1488+8G>A rs762836610 0.00001
NM_170707.4(LMNA):c.948G>A (p.Lys316=) rs778421025 0.00001
NM_170707.4(LMNA):c.1968+18dup rs554157057

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