ClinVar Miner

List of variants in gene LAMA2 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000426.4(LAMA2):c.9211+6T>C rs201375881 0.00091
NM_000426.4(LAMA2):c.5531G>A (p.Arg1844His) rs150691000 0.00056
NM_000426.4(LAMA2):c.6506A>G (p.Asn2169Ser) rs144845618 0.00051
NM_000426.4(LAMA2):c.3582T>C (p.Ile1194=) rs137962409 0.00031
NM_000426.4(LAMA2):c.6832A>G (p.Met2278Val) rs146854942 0.00026
NM_000426.4(LAMA2):c.9001G>C (p.Val3001Leu) rs189360899 0.00013
NM_000426.4(LAMA2):c.3004G>A (p.Gly1002Ser) rs200953311 0.00011
NM_000426.4(LAMA2):c.8467C>T (p.Pro2823Ser) rs151334775 0.00010
NM_000426.4(LAMA2):c.3403A>C (p.Thr1135Pro) rs760558443 0.00005
NM_000426.4(LAMA2):c.2916T>G (p.Phe972Leu) rs763840955 0.00003
NM_000426.4(LAMA2):c.4960-17C>A rs758048596 0.00003
NM_000426.4(LAMA2):c.5688C>T (p.His1896=) rs573779258 0.00003
NM_000426.4(LAMA2):c.2639A>G (p.Asp880Gly) rs766536888 0.00001
NM_000426.4(LAMA2):c.277C>A (p.Pro93Thr) rs530988751 0.00001
NM_000426.4(LAMA2):c.4592C>G (p.Pro1531Arg) rs760292213 0.00001
NM_000426.4(LAMA2):c.5285G>A (p.Arg1762Gln) rs138296015 0.00001
NM_000426.4(LAMA2):c.6421G>A (p.Ala2141Thr) rs768685078 0.00001
NM_000426.4(LAMA2):c.6599G>A (p.Arg2200His) rs779326725 0.00001
NM_000426.4(LAMA2):c.6956G>A (p.Arg2319Gln) rs750013590 0.00001
NM_000426.4(LAMA2):c.1028-6A>G rs1778989846
NM_000426.4(LAMA2):c.1240T>C (p.Cys414Arg) rs778370179
NM_000426.4(LAMA2):c.13G>T (p.Ala5Ser) rs367622987
NM_000426.4(LAMA2):c.2059C>G (p.Gln687Glu) rs1583345100
NM_000426.4(LAMA2):c.2111A>G (p.Asn704Ser) rs1583362157
NM_000426.4(LAMA2):c.3217A>G (p.Asn1073Asp)
NM_000426.4(LAMA2):c.4649C>T (p.Pro1550Leu) rs1554278657
NM_000426.4(LAMA2):c.5530C>T (p.Arg1844Cys) rs56173620
NM_000426.4(LAMA2):c.6671T>C (p.Ile2224Thr) rs775847695
NM_000426.4(LAMA2):c.6752C>A (p.Pro2251His) rs546395293
NM_000426.4(LAMA2):c.7040G>T (p.Gly2347Val) rs529981007
NM_000426.4(LAMA2):c.8076-3T>C
NM_000426.4(LAMA2):c.855G>T (p.Gly285=) rs1008267864
NM_000426.4(LAMA2):c.9340G>A (p.Val3114Ile) rs200796753

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