ClinVar Miner

List of variants reported as benign for Lethal tight skin contracture syndrome

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
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_005857.5(ZMPSTE24):c.*723C>T rs10489431 0.07425
NM_005857.5(ZMPSTE24):c.651T>C (p.Asp217=) rs2076697 0.07398
NM_005857.5(ZMPSTE24):c.*890A>G rs10489432 0.07352
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_005857.5(ZMPSTE24):c.*59C>A rs193076795 0.00570
NM_005857.5(ZMPSTE24):c.990C>T (p.Leu330=) rs116284141 0.00508
NM_005857.5(ZMPSTE24):c.453A>G (p.Glu151=) rs115755400 0.00314
NM_005857.5(ZMPSTE24):c.*521A>G rs75622994 0.00309
NM_170707.4(LMNA):c.-88G>T rs115800510

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