ClinVar Miner

List of variants reported as likely benign for progeria by Fulgent Genetics, Fulgent Genetics

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

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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: 24

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HGVS	dbSNP	gnomAD frequency
NM_007055.4(POLR3A):c.1724A>T (p.Lys575Met)	rs56214655	0.01630
NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val)	rs146253630	0.00599
NM_170707.4(LMNA):c.1489-16C>G	rs201379016	0.00076
NM_170707.4(LMNA):c.811-12C>T	rs372962650	0.00012
NM_170707.4(LMNA):c.1488+7G>A	rs374209100	0.00007
NM_170707.4(LMNA):c.1299C>T (p.His433=)	rs61217436	0.00004
NM_170707.4(LMNA):c.1380+18G>A	rs777846700	0.00003
NM_170707.4(LMNA):c.1381-13A>G	rs750192865	0.00003
NM_170707.4(LMNA):c.1857T>C (p.Ser619=)	rs368581237	0.00002
NM_170707.4(LMNA):c.1155G>A (p.Glu385=)	rs878855232	0.00001
NM_170707.4(LMNA):c.1157+19G>A	rs757715731	0.00001
NM_170707.4(LMNA):c.12G>A (p.Pro4=)	rs369823958	0.00001
NM_170707.4(LMNA):c.153G>T (p.Ser51=)	rs751886390	0.00001
NM_170707.4(LMNA):c.1662G>A (p.Glu554=)	rs201936898	0.00001
NM_170707.4(LMNA):c.1699-9C>T	rs776616872	0.00001
NM_170707.4(LMNA):c.1731T>C (p.Ala577=)	rs776066211	0.00001
NM_170707.4(LMNA):c.369G>A (p.Lys123=)	rs367938270	0.00001
NM_170707.4(LMNA):c.96G>A (p.Lys32=)	rs775429079	0.00001
NM_007055.4(POLR3A):c.1745G>T (p.Arg582Leu)	rs34588967
NM_170707.4(LMNA):c.1381-6C>G	rs371635492
NM_170707.4(LMNA):c.1485G>A (p.Val495=)	rs1651703234
NM_170707.4(LMNA):c.1659C>T (p.Asp553=)	rs748768783
NM_170707.4(LMNA):c.1968+18dup	rs554157057
NM_170707.4(LMNA):c.927C>A (p.Leu309=)	rs752558753

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