ClinVar Miner

List of variants reported as likely benign for Junctional epidermolysis bullosa gravis of Herlitz

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_198129.4(LAMA3):c.3622C>A (p.Pro1208Thr) rs17202961 0.05021
NM_198129.4(LAMA3):c.7797C>T (p.Asp2599=) rs61751706 0.00523
NM_198129.4(LAMA3):c.8629C>T (p.His2877Tyr) rs35153125 0.00264
NM_005562.3(LAMC2):c.1899G>C (p.Leu633=) rs141812464 0.00257
NM_198129.4(LAMA3):c.8028C>T (p.Asn2676=) rs35737354 0.00238
NM_198129.4(LAMA3):c.9559C>T (p.Arg3187Cys) rs150956802 0.00200
NM_198129.4(LAMA3):c.4998+1367G>A rs199639611 0.00192
NM_005562.3(LAMC2):c.1637C>A (p.Ala546Asp) rs140949383 0.00177
NM_005562.3(LAMC2):c.889A>G (p.Thr297Ala) rs143817389 0.00144
NM_198129.4(LAMA3):c.7218C>T (p.Asp2406=) rs62093184 0.00134
NM_000228.3(LAMB3):c.1051G>A (p.Glu351Lys) rs114875539 0.00107
NM_000228.3(LAMB3):c.67C>T (p.Arg23Cys) rs115191959 0.00047
NM_198129.4(LAMA3):c.4557C>T (p.Val1519=) rs202215313 0.00040
NM_198129.4(LAMA3):c.6436G>A (p.Ala2146Thr) rs146005577 0.00023
NM_005562.3(LAMC2):c.503+14G>A rs372097432 0.00005
NM_000228.3(LAMB3):c.2137+37G>A rs374527059 0.00003
NM_000228.3(LAMB3):c.628+42G>A rs587776812 0.00001
NM_005562.3(LAMC2):c.3328+19_3328+25del rs747693187
NM_005562.3(LAMC2):c.3328+8AACCCAC[3] rs747693187
NM_198129.4(LAMA3):c.6836-36_6836-16del rs1555734493
NM_198129.4(LAMA3):c.7928G>T (p.Arg2643Leu) rs45516998
NM_198129.4(LAMA3):c.8576+7G>T rs1258107

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