ClinVar Miner

List of variants in gene LAMA2 reported as pathogenic by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000426.4(LAMA2):c.4048C>T (p.Arg1350Ter) rs756854513 0.00010
NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer) rs794727594 0.00006
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter) rs121913572 0.00004
NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter) rs398123373 0.00003
NM_000426.4(LAMA2):c.5116C>T (p.Arg1706Ter) rs758775001 0.00002
NM_000426.4(LAMA2):c.5562+5G>C rs771046502 0.00002
NM_000426.4(LAMA2):c.112+1G>A rs398123367 0.00001
NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs) rs202247791 0.00001
NM_000426.4(LAMA2):c.2749+1G>C rs759555791 0.00001
NM_000426.4(LAMA2):c.396+1G>T rs770617208 0.00001
NM_000426.4(LAMA2):c.4523+1G>A rs398123375 0.00001
NM_000426.4(LAMA2):c.5706_5712del (p.Asp1902fs) rs398123377 0.00001
NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter) rs398123378 0.00001
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter) rs398123383 0.00001
NM_000426.4(LAMA2):c.1032_1042del (p.Cys344fs) rs886044344
NM_000426.4(LAMA2):c.1610_1611del (p.Ile537fs) rs886043374
NM_000426.4(LAMA2):c.184G>T (p.Gly62Ter) rs398123368
NM_000426.4(LAMA2):c.1855_1856insATGTTCAC (p.Arg619fs) rs797044643
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000426.4(LAMA2):c.2352T>G (p.Tyr784Ter) rs886044330
NM_000426.4(LAMA2):c.2750-1G>C rs9492297
NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter) rs398123371
NM_000426.4(LAMA2):c.3237C>A (p.Cys1079Ter) rs1554268940
NM_000426.4(LAMA2):c.3623_3645del (p.Lys1208fs) rs727503992
NM_000426.4(LAMA2):c.3630del (p.Ile1210fs) rs398123372
NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter) rs121913569
NM_000426.4(LAMA2):c.3924+2T>C rs1554269966
NM_000426.4(LAMA2):c.3979_3985dup (p.Phe1329Ter) rs886042847
NM_000426.4(LAMA2):c.444dup (p.Pro149fs) rs759516529
NM_000426.4(LAMA2):c.5050G>T (p.Glu1684Ter) rs201632009
NM_000426.4(LAMA2):c.524_534dup (p.Leu179delinsSerAlaTer) rs797044728
NM_000426.4(LAMA2):c.5605G>T (p.Glu1869Ter) rs746762473
NM_000426.4(LAMA2):c.6011del (p.Asn2004fs) rs398123379
NM_000426.4(LAMA2):c.6038del (p.Leu2012_Leu2013insTer) rs398123380
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter) rs121913576
NM_000426.4(LAMA2):c.7155+1G>A rs886043692
NM_000426.4(LAMA2):c.7279_7280del (p.Leu2427fs) rs398123385
NM_000426.4(LAMA2):c.7439+1G>A rs886043630
NM_000426.4(LAMA2):c.7536del (p.Asp2513fs) rs398123387
NM_000426.4(LAMA2):c.7810C>T (p.Arg2604Ter) rs766920075
NM_000426.4(LAMA2):c.7991del (p.Gly2664fs) rs886039541
NM_000426.4(LAMA2):c.8155G>T (p.Glu2719Ter) rs1289855948
NM_000426.4(LAMA2):c.817A>T (p.Arg273Ter) rs886043648
NM_000426.4(LAMA2):c.8669dup (p.Leu2890fs) rs1554316216
NM_000426.4(LAMA2):c.9101_9104dup (p.His3035fs) rs398123390
NM_000426.4(LAMA2):c.9212-1G>A rs398123391

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