ClinVar Miner

List of variants reported as likely benign for mandibuloacral dysplasia with type A lipodystrophy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):

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
Mandibuloacral dysplasia with type A lipodystrophy

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_170707.4(LMNA):c.357C>T (p.Arg119=)	rs41313880	0.00321
NM_170707.4(LMNA):c.811-13T>A	rs80356809	0.00309
NM_005572.3(LMNA):c.-223C>T	rs188625872	0.00284
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)	rs149339264	0.00123
NM_170707.4(LMNA):c.-128T>C	rs80356803	0.00051
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.1551G>A (p.Gln517=)	rs41314035

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