ClinVar Miner

List of variants reported as likely pathogenic for Laminin alpha 2-related dystrophy

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Total variants: 33
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HGVS dbSNP
NC_000006.11:g.(?_129371043)_(129622037_?)dup
NC_000006.11:g.(?_129371063)_(129622017_?)dup
NC_000006.12:g.(?_129049908)_(129300882_?)dup
NC_000006.12:g.(?_129165566)_(129192863_?)del
NC_000006.12:g.(?_129353154)_(129366371_?)dup
NC_000006.12:g.(?_129502639)_(129514615_?)del
NM_000426.3(LAMA2):c.1027+1G>T rs1064797327
NM_000426.3(LAMA2):c.1028-1G>A rs1562281922
NM_000426.3(LAMA2):c.112+1G>A rs398123367
NM_000426.3(LAMA2):c.2322+1G>C rs945091158
NM_000426.3(LAMA2):c.2451-2A>G rs993196576
NM_000426.3(LAMA2):c.3736-2A>T rs372715292
NM_000426.3(LAMA2):c.4523+1G>A rs398123375
NM_000426.3(LAMA2):c.4717+1G>T rs1131691660
NM_000426.3(LAMA2):c.4960-2A>G rs1562512707
NM_000426.3(LAMA2):c.5562+1G>A rs376014152
NM_000426.3(LAMA2):c.6429+1G>T rs1262029350
NM_000426.3(LAMA2):c.6573+1G>A rs757435241
NM_000426.3(LAMA2):c.7899-1G>A rs1562614305
NM_000426.3(LAMA2):c.8547+1G>T rs1554315373
NM_000426.3(LAMA2):c.8547+2T>C rs1450790879
NM_000426.4(LAMA2):c.112+2T>C
NM_000426.4(LAMA2):c.2323-1G>T
NM_000426.4(LAMA2):c.4436_4436+35del
NM_000426.4(LAMA2):c.5445+1G>A
NM_000426.4(LAMA2):c.5562+5G>A
NM_000426.4(LAMA2):c.5968+1G>A
NM_000426.4(LAMA2):c.5969-1G>C
NM_000426.4(LAMA2):c.6086-2A>C
NM_000426.4(LAMA2):c.6268+1G>T
NM_000426.4(LAMA2):c.7440-1G>A
NM_000426.4(LAMA2):c.820-1G>A
NM_000426.4(LAMA2):c.8703+2T>G

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