ClinVar Miner

List of variants reported as uncertain significance for congenital merosin-deficient muscular dystrophy 1A by New York Genome Center

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.8920A>T (p.Thr2974Ser) rs140202046 0.00021
NM_000426.4(LAMA2):c.8570A>G (p.Gln2857Arg) rs372956200 0.00005
NM_000426.4(LAMA2):c.716G>A (p.Arg239His) rs776777494 0.00001
NM_000426.4(LAMA2):c.2069A>G (p.Tyr690Cys) rs2114287747
NM_000426.4(LAMA2):c.4874C>T (p.Pro1625Leu)

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