ClinVar Miner

List of variants reported as not provided for congenital merosin-deficient muscular dystrophy 1A by GenomeConnect, ClinGen

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053 0.00098
NM_000426.4(LAMA2):c.6229G>A (p.Ala2077Thr) rs142264176 0.00026
NM_000426.4(LAMA2):c.409G>A (p.Ala137Thr) rs368349321 0.00006
NM_000426.4(LAMA2):c.5158G>C (p.Glu1720Gln) rs760572086 0.00006
NM_000426.4(LAMA2):c.370G>T (p.Val124Leu) rs1278777348

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