ClinVar Miner

List of variants in gene LAMA2 reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_000426.4(LAMA2):c.5562+1G>A rs376014152 0.00005
NM_000426.4(LAMA2):c.2451-2A>G rs993196576 0.00003
NM_000426.4(LAMA2):c.4960-17C>A rs758048596 0.00003
NM_000426.4(LAMA2):c.4176+1G>A rs1404492484 0.00002
NM_000426.4(LAMA2):c.2322+1G>C rs945091158 0.00001
NM_000426.4(LAMA2):c.2323-1G>T rs1278823424 0.00001
NM_000426.4(LAMA2):c.2451-1del rs767784355 0.00001
NM_000426.4(LAMA2):c.4860G>A (p.Lys1620=) rs1256865383 0.00001
NM_000426.4(LAMA2):c.5727-2A>G rs148433965 0.00001
NM_000426.4(LAMA2):c.6992+1G>T rs1256470015 0.00001
NM_000426.4(LAMA2):c.7440-2A>G rs1443920683 0.00001
NC_000006.11:g.(?_129371053)_(129381051_?)dup
NC_000006.11:g.(?_129371053)_(129419570_?)dup
NC_000006.11:g.(?_129371063)_(129622017_?)dup
NC_000006.11:g.(?_129380919)_(129514008_?)dup
NC_000006.11:g.(?_129575033)_(129591846_?)del
NC_000006.11:g.(?_129601196)_(129691145_?)dup
NC_000006.11:g.(?_129612749)_(129622027_?)dup
NC_000006.11:g.(?_129649403)_(129649577_?)del
NC_000006.11:g.(?_129660158)_129663613dup
NC_000006.11:g.(?_129766802)_(129777649_?)dup
NC_000006.12:g.(?_129049908)_(129300882_?)dup
NC_000006.12:g.(?_129165566)_(129192863_?)del
NC_000006.12:g.(?_129353154)_(129366371_?)dup
NM_000426.4(LAMA2):c.1028-1G>A rs1562281922
NM_000426.4(LAMA2):c.112+2_112+12del
NM_000426.4(LAMA2):c.113-2A>G
NM_000426.4(LAMA2):c.1206+2T>A
NM_000426.4(LAMA2):c.1207-1G>T rs746785436
NM_000426.4(LAMA2):c.1207-2A>G
NM_000426.4(LAMA2):c.1326T>G (p.Cys442Trp) rs1226441435
NM_000426.4(LAMA2):c.1782+1G>A
NM_000426.4(LAMA2):c.1782+2_1782+4del rs2115037261
NM_000426.4(LAMA2):c.1783-1G>C rs2114276133
NM_000426.4(LAMA2):c.1884+1G>A rs2114276718
NM_000426.4(LAMA2):c.1884+1G>T
NM_000426.4(LAMA2):c.1884+2T>C rs968447029
NM_000426.4(LAMA2):c.1885-1G>A
NM_000426.4(LAMA2):c.1885-2A>G
NM_000426.4(LAMA2):c.2322+1G>A
NM_000426.4(LAMA2):c.2322+2T>C
NM_000426.4(LAMA2):c.2323-1G>A rs1278823424
NM_000426.4(LAMA2):c.2450+1G>C
NM_000426.4(LAMA2):c.2538-1G>C
NM_000426.4(LAMA2):c.2750-1G>C rs9492297
NM_000426.4(LAMA2):c.2856+1G>A
NM_000426.4(LAMA2):c.2856+2T>C
NM_000426.4(LAMA2):c.3037+1G>A
NM_000426.4(LAMA2):c.3037+1G>T rs1773291512
NM_000426.4(LAMA2):c.3411+1G>A rs2114494623
NM_000426.4(LAMA2):c.3555+1G>A rs1057518119
NM_000426.4(LAMA2):c.3556-1G>C rs2114501078
NM_000426.4(LAMA2):c.3556-2A>T
NM_000426.4(LAMA2):c.3735+1G>A
NM_000426.4(LAMA2):c.4059-1G>A
NM_000426.4(LAMA2):c.4436_4436+35del rs1776322102
NM_000426.4(LAMA2):c.4717+1G>C rs1131691660
NM_000426.4(LAMA2):c.4717+1G>T rs1131691660
NM_000426.4(LAMA2):c.4717+2T>A rs779834223
NM_000426.4(LAMA2):c.4860+2T>C rs2114620232
NM_000426.4(LAMA2):c.4861-2A>G rs2114627220
NM_000426.4(LAMA2):c.4959+1G>A rs2114627508
NM_000426.4(LAMA2):c.4960-2A>G rs1562512707
NM_000426.4(LAMA2):c.5072-539_5098del rs2114670709
NM_000426.4(LAMA2):c.5235-1G>A rs1779406142
NM_000426.4(LAMA2):c.5445+1G>A rs1779423047
NM_000426.4(LAMA2):c.5445+1G>T
NM_000426.4(LAMA2):c.5446-2A>C
NM_000426.4(LAMA2):c.5563-1G>A
NM_000426.4(LAMA2):c.5727-1G>A
NM_000426.4(LAMA2):c.5968+1G>A rs1207051921
NM_000426.4(LAMA2):c.5969-1G>A
NM_000426.4(LAMA2):c.5969-1G>C rs1781951075
NM_000426.4(LAMA2):c.6085+2T>A
NM_000426.4(LAMA2):c.6269-1G>C
NM_000426.4(LAMA2):c.6269-2A>C rs2114770006
NM_000426.4(LAMA2):c.6272_6274+3del
NM_000426.4(LAMA2):c.6274+2T>G rs752812435
NM_000426.4(LAMA2):c.6275-1G>T
NM_000426.4(LAMA2):c.6275-2A>T
NM_000426.4(LAMA2):c.6430-19_6461del
NM_000426.4(LAMA2):c.6430-2A>G rs2114788484
NM_000426.4(LAMA2):c.6573+1G>A rs757435241
NM_000426.4(LAMA2):c.6573+1G>C
NM_000426.4(LAMA2):c.7155+1G>A rs886043692
NM_000426.4(LAMA2):c.7300+2T>G rs761456598
NM_000426.4(LAMA2):c.7301-1G>A
NM_000426.4(LAMA2):c.7440-1G>A rs1244029486
NM_000426.4(LAMA2):c.7573-2A>G
NM_000426.4(LAMA2):c.7573-2A>T
NM_000426.4(LAMA2):c.7749+1G>T
NM_000426.4(LAMA2):c.7899-1G>A rs1562614305
NM_000426.4(LAMA2):c.8076-1G>A rs1554310169
NM_000426.4(LAMA2):c.820-1G>A rs1370654793
NM_000426.4(LAMA2):c.8358-1del
NM_000426.4(LAMA2):c.8544C>A (p.His2848Gln)
NM_000426.4(LAMA2):c.8666G>A (p.Gly2889Glu) rs2114901040
NM_000426.4(LAMA2):c.8703+1G>C rs1446002589
NM_000426.4(LAMA2):c.8703+2T>G rs1785975460
NM_000426.4(LAMA2):c.8857+1G>A rs112827330
NM_000426.4(LAMA2):c.8858-1G>A rs1554319117
NM_000426.4(LAMA2):c.909+2T>A
NM_000426.4(LAMA2):c.9235_9238dup (p.Thr3080fs) rs2114947621

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