ClinVar Miner

List of variants reported as likely benign for progeria by Illumina Laboratory Services, Illumina

Included ClinVar conditions (14):

Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with type A lipodystrophy; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with type A lipodystrophy; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive; Restrictive dermopathy 2
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with type A lipodystrophy; Lethal tight skin contracture syndrome; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Congenital muscular dystrophy due to LMNA mutation
Garg-Mishra progeroid syndrome
Hutchinson-Gilford syndrome
Neonatal pseudo-hydrocephalic progeroid syndrome
Neonatal pseudo-hydrocephalic progeroid syndrome; Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Neonatal pseudo-hydrocephalic progeroid syndrome; Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome; Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Nestor-Guillermo progeria syndrome
Primary dilated cardiomyopathy; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Primary dilated cardiomyopathy; Hutchinson-Gilford syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001143985.1(BANF1):c.-254G>T	rs78790365	0.02064
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_003860.4(BANF1):c.*100C>T	rs145574018	0.00424
NM_170707.4(LMNA):c.811-13T>A	rs80356809	0.00309
NM_001143985.1(BANF1):c.-297G>A	rs141605220	0.00271
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)	rs149339264	0.00123
NM_170707.4(LMNA):c.-128T>C	rs80356803	0.00051
NM_001143985.1(BANF1):c.-408C>T	rs117774800	0.00044
NM_003860.4(BANF1):c.*273C>G	rs142270527	0.00037
NM_170707.4(LMNA):c.1584G>A (p.Thr528=)	rs80356812	0.00029
NM_170707.4(LMNA):c.1149G>A (p.Glu383=)	rs267607603	0.00006
NM_170707.4(LMNA):c.1488G>A (p.Thr496=)	rs375516745	0.00005
NM_170707.4(LMNA):c.1698+57G>A	rs557334569	0.00002
NM_170707.4(LMNA):c.-88G>T	rs115800510
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)	rs41314035

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