List of variants in gene LMNA reported as pathogenic for not provided

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: 96

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HGVS	dbSNP	gnomAD frequency
NM_170707.4(LMNA):c.1580G>A (p.Arg527His)	rs57520892	0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln)	rs59301204	0.00004
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)	rs59885338	0.00003
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)	rs386134243	0.00001
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)	rs267607555	0.00001
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)	rs397517889	0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His)	rs267607578	0.00001
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)	rs57920071	0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)	rs11575937	0.00001
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys)	rs57318642	0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)	rs267607613	0.00001
NM_170707.4(LMNA):c.356+1G>C	rs794728589	0.00001
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp)	rs59026483	0.00001
NM_170707.4(LMNA):c.640-10A>G	rs80356807	0.00001
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)	rs60682848	0.00001
NM_170707.4(LMNA):c.768G>A (p.Val256=)	rs794728593	0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)	rs56816490	0.00001
NM_170707.4(LMNA):c.1057C>T (p.Gln353Ter)	rs267607623
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)	rs60458016
NM_170707.4(LMNA):c.1078C>T (p.Gln360Ter)	rs1064796677
NM_170707.4(LMNA):c.1112_1115dup (p.Glu372fs)	rs397517888
NM_170707.4(LMNA):c.1130G>A (p.Arg377His)	rs61672878
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu)	rs61672878
NM_170707.4(LMNA):c.1142_1157+1del	rs1553265755
NM_170707.4(LMNA):c.1146C>T (p.Gly382=)	rs57508089
NM_170707.4(LMNA):c.1150del (p.Glu384fs)	rs879253913
NM_170707.4(LMNA):c.1157+1G>C
NM_170707.4(LMNA):c.1157+1G>T	rs267607590
NM_170707.4(LMNA):c.1157G>A (p.Arg386Lys)	rs267607545
NM_170707.4(LMNA):c.116A>G (p.Asn39Ser)	rs57983345
NM_170707.4(LMNA):c.122G>A (p.Arg41His)	rs1060502215
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter)	rs267607618
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)	rs58932704
NM_170707.4(LMNA):c.1366A>G (p.Asn456Asp)	rs267607599
NM_170707.4(LMNA):c.1368C>A (p.Asn456Lys)	rs61235244
NM_170707.4(LMNA):c.1380+1G>A	rs267607552
NM_170707.4(LMNA):c.139G>T (p.Asp47Tyr)
NM_170707.4(LMNA):c.1401G>A (p.Trp467Ter)	rs794728613
NM_170707.4(LMNA):c.143G>C (p.Arg48Pro)	rs1572332235
NM_170707.4(LMNA):c.1477C>T (p.Gln493Ter)	rs56699480
NM_170707.4(LMNA):c.1488+1G>A	rs267607640
NM_170707.4(LMNA):c.1524_1534dup (p.Leu512fs)	rs1553266098
NM_170707.4(LMNA):c.1526dup (p.Thr510fs)	rs58013325
NM_170707.4(LMNA):c.1540T>C (p.Trp514Arg)	rs879254082
NM_170707.4(LMNA):c.1560G>A (p.Trp520Ter)	rs794728595
NM_170707.4(LMNA):c.1582A>C (p.Thr528Pro)	rs1187380696
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys)	rs57629361
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg)	rs57629361
NM_170707.4(LMNA):c.1608+5G>C	rs267607539
NM_170707.4(LMNA):c.1609-1G>A	rs111569862
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys)	rs56984562
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)	rs61444459
NM_170707.4(LMNA):c.1622G>C (p.Arg541Pro)	rs61444459
NM_170707.4(LMNA):c.1629_1636del (p.Val544fs)	rs1064793674
NM_170707.4(LMNA):c.162_163del (p.Asn56fs)	rs879253932
NM_170707.4(LMNA):c.1824C>T (p.Gly608=)	rs58596362
NM_170707.4(LMNA):c.184C>G (p.Arg62Gly)	rs56793579
NM_170707.4(LMNA):c.1961dup (p.Thr655fs)	rs863225024
NM_170707.4(LMNA):c.217G>T (p.Glu73Ter)	rs1649727816
NM_170707.4(LMNA):c.244G>A (p.Glu82Lys)	rs59270054
NM_170707.4(LMNA):c.298_299del (p.Ala100fs)	rs1649736692
NM_170707.4(LMNA):c.348dup (p.Lys117fs)	rs267607646
NM_170707.4(LMNA):c.356+1G>A	rs794728589
NM_170707.4(LMNA):c.3G>A (p.Met1Ile)	rs794728598
NM_170707.4(LMNA):c.3G>C (p.Met1Ile)	rs794728598
NM_170707.4(LMNA):c.3G>T (p.Met1Ile)	rs794728598
NM_170707.4(LMNA):c.522del (p.Ala175fs)	rs794728606
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln)	rs267607571
NM_170707.4(LMNA):c.585C>G (p.Asn195Lys)	rs28933091
NM_170707.4(LMNA):c.586_596del (p.Arg196fs)	rs794728607
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys)	rs61195471
NM_170707.4(LMNA):c.621GAA[1] (p.Lys208del)	rs267607540
NM_170707.4(LMNA):c.694G>A (p.Gly232Arg)	rs267607609
NM_170707.4(LMNA):c.700C>T (p.Gln234Ter)	rs267607573
NM_170707.4(LMNA):c.736C>T (p.Gln246Ter)	rs267607587
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)	rs121912496
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)	rs59332535
NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter)	rs58048078
NM_170707.4(LMNA):c.778AAG[1] (p.Lys261del)	rs58978449
NM_170707.4(LMNA):c.784del (p.Glu262fs)	rs886041211
NM_170707.4(LMNA):c.799T>C (p.Tyr267His)	rs267607593
NM_170707.4(LMNA):c.810+2T>C	rs2102882192
NM_170707.4(LMNA):c.835del (p.Glu279fs)	rs1064794966
NM_170707.4(LMNA):c.859del (p.Ala287fs)	rs59564495
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys)	rs397517912
NM_170707.4(LMNA):c.871G>A (p.Glu291Lys)	rs794728594
NM_170707.4(LMNA):c.886_887insA (p.Arg296fs)	rs797044758
NM_170707.4(LMNA):c.908_909del (p.Ser303fs)	rs59684335
NM_170707.4(LMNA):c.949G>T (p.Glu317Ter)	rs56816490
NM_170707.4(LMNA):c.958del (p.Leu320fs)	rs397517915
NM_170707.4(LMNA):c.960del (p.Arg321fs)	rs56771886
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)	rs267607554
NM_170707.4(LMNA):c.967_968del (p.Leu323fs)	rs876661352
NM_170707.4(LMNA):c.973dup (p.Asp325fs)	rs794728609
NM_170707.4(LMNA):c.978_979del (p.Leu327fs)	rs794728610
NM_170707.4(LMNA):c.978dup (p.Leu327fs)	rs1553265630

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