List of variants in gene LMNA reported as likely pathogenic by Blueprint Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr)	rs56851164	0.00009
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys)	rs374726751	0.00004
NM_170707.4(LMNA):c.1412G>A (p.Arg471His)	rs267607578	0.00001
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys)	rs794728591	0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val)	rs397517906	0.00001
NM_170707.4(LMNA):c.1262_1263del (p.Leu421fs)	rs1572364243
NM_170707.4(LMNA):c.1579del (p.Arg527fs)	rs1572366608
NM_170707.4(LMNA):c.354_355delinsAG (p.Arg119Gly)	rs869025458
NM_170707.4(LMNA):c.618C>A (p.Phe206Leu)	rs267607629
NM_170707.4(LMNA):c.626del (p.Asn209fs)	rs62636507
NM_170707.4(LMNA):c.859del (p.Ala287fs)	rs59564495

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