ClinVar Miner

List of variants reported as likely benign for laminopathy by Revvity Omics, Revvity

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_182914.3(SYNE2):c.3767G>A (p.Arg1256His) rs183356628 0.00084
NM_182914.3(SYNE2):c.17033C>T (p.Thr5678Met) rs147365925 0.00073
NM_182914.3(SYNE2):c.3506G>A (p.Arg1169His) rs200437377 0.00064
NM_182914.3(SYNE2):c.4912T>C (p.Tyr1638His) rs146801942 0.00052
NM_182914.3(SYNE2):c.3773A>G (p.Tyr1258Cys) rs370541277 0.00051
NM_182914.3(SYNE2):c.521A>G (p.Lys174Arg) rs139238702 0.00048
NM_182914.3(SYNE2):c.2477A>G (p.Asn826Ser) rs372150492 0.00019
NM_182914.3(SYNE2):c.19034G>A (p.Arg6345Gln) rs141882853 0.00018
NM_182914.3(SYNE2):c.8911C>G (p.Gln2971Glu) rs200909650 0.00014
NM_182914.3(SYNE2):c.15031A>G (p.Ile5011Val) rs201269146 0.00011
NM_182914.3(SYNE2):c.12614C>T (p.Thr4205Ile) rs376207235 0.00006
NM_182914.3(SYNE2):c.5045T>C (p.Leu1682Pro) rs199668814 0.00005
NM_182914.3(SYNE2):c.5575A>G (p.Lys1859Glu) rs201327410 0.00004
NM_182914.3(SYNE2):c.6746G>A (p.Arg2249Gln) rs764036360 0.00002
NM_182914.3(SYNE2):c.10195C>T (p.Arg3399Cys) rs528064472 0.00001
NM_182914.3(SYNE2):c.17618C>A (p.Ala5873Glu) rs563482043
NM_182914.3(SYNE2):c.9926A>T (p.His3309Leu) rs8010699

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