ClinVar Miner

List of variants in gene LAMA2 studied for Intellectual disability

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met) rs117422805 0.00173
NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr) rs34505698 0.00066
NM_000426.4(LAMA2):c.3244C>T (p.His1082Tyr) rs146490004 0.00028
NM_000426.4(LAMA2):c.9161C>A (p.Ala3054Glu) rs151049890 0.00010
NM_000426.4(LAMA2):c.4930G>A (p.Val1644Met) rs182762857 0.00008
NM_000426.4(LAMA2):c.2512G>A (p.Gly838Arg) rs150361703 0.00004
NM_000426.4(LAMA2):c.1018G>T (p.Glu340Ter) rs1778647170
NM_000426.4(LAMA2):c.2296T>C (p.Cys766Arg) rs1787583332
NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser) rs35065563
NM_000426.4(LAMA2):c.5446-8G>T rs377089476
NM_000426.4(LAMA2):c.7534C>A (p.Pro2512Thr) rs756669467
NM_000426.4(LAMA2):c.8116G>A (p.Asp2706Asn) rs1784913484

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