ClinVar Miner

List of variants studied for congenital merosin-deficient muscular dystrophy 1A by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000426.4(LAMA2):c.2054T>G (p.Leu685Arg) rs746641607 0.00007
NM_000426.4(LAMA2):c.1282_1283dup (p.Asp429fs) rs2114993311
NM_000426.4(LAMA2):c.3938del (p.Tyr1313fs) rs2114502928
NM_000426.4(LAMA2):c.4058+1G>A rs2114503272
NM_000426.4(LAMA2):c.7630del (p.Ile2544fs) rs1784335277

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