ClinVar Miner

List of variants studied for laminopathy by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys) rs749550071 0.00013
NM_170707.4(LMNA):c.1580G>A (p.Arg527His) rs57520892 0.00004
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338 0.00003
NM_002296.4(LBR):c.1747C>T (p.Arg583Ter) rs1057516045 0.00002
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555 0.00001
NM_170707.4(LMNA):c.1315C>T (p.Arg439Cys) rs62636506 0.00001
NM_000117.3(EMD):c.428_430del (p.Ser143_Glu144delinsTer)
NM_000117.3(EMD):c.650_654dup (p.Gln219fs) rs730880352
NM_001159699.2(FHL1):c.613_614del (p.Val205fs) rs1569530588
NM_001159699.2(FHL1):c.786C>G (p.His262Gln)
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser) rs80338938
NM_005857.5(ZMPSTE24):c.1059+2dup
NM_005857.5(ZMPSTE24):c.1085dup (p.Leu362fs) rs137854889
NM_014319.5(LEMD3):c.906del (p.Gly303fs) rs2136313188
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys) rs918645468
NM_170707.4(LMNA):c.266G>C (p.Arg89Pro) rs59040894
NM_182914.3(SYNE2):c.17583G>T (p.Trp5861Cys)
NM_182961.4(SYNE1):c.13075T>C (p.Trp4359Arg)
NM_182961.4(SYNE1):c.4000C>G (p.Arg1334Gly)

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