ClinVar Miner

List of variants reported as pathogenic for progeria by OMIM

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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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter)	rs148932047	0.00004
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter)	rs141659018	0.00004
NM_007055.4(POLR3A):c.2617-1G>A	rs181087667	0.00002
NM_007055.4(POLR3A):c.3206G>A (p.Arg1069Gln)	rs778985686	0.00002
NM_007055.4(POLR3A):c.1048+5G>T	rs890755853	0.00001
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter)	rs774007232	0.00001
NM_007055.4(POLR3A):c.3337-5T>A	rs368905417	0.00001
NM_003860.4(BANF1):c.34G>A (p.Ala12Thr)	rs387906871
NM_007055.4(POLR3A):c.*18C>T	rs1248039821
NM_007055.4(POLR3A):c.1800C>T (p.Ile600=)	rs1564620047
NM_007055.4(POLR3A):c.2474C>G (p.Ser825Ter)	rs1564617848
NM_007055.4(POLR3A):c.3337-1G>A	rs1041175828
NM_007055.4(POLR3A):c.3G>T (p.Met1Ile)	rs1168641193
NM_007055.4(POLR3A):c.4003G>A (p.Gly1335Arg)	rs768222183
NM_007055.4(POLR3A):c.[1909+22G>A;3337-11T>C]
NM_019059.5(TOMM7):c.73T>C (p.Trp25Arg)
NM_019059.5(TOMM7):c.86C>T (p.Pro29Leu)
NM_170707.4(LMNA):c.1821G>A (p.Val607=)	rs59886214
NM_170707.4(LMNA):c.1822G>A (p.Gly608Ser)	rs61064130
NM_170707.4(LMNA):c.1824C>T (p.Gly608=)	rs58596362
NM_170707.4(LMNA):c.1968+1G>A	rs113436208

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