ClinVar Miner

List of variants reported as pathogenic for Pierson syndrome

Included ClinVar conditions (2):
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_002292.4(LAMB2):c.2890C>T (p.Arg964Ter) rs730880125 0.00006
NM_002292.4(LAMB2):c.1477del (p.Cys493fs) rs969481454 0.00002
NM_002292.4(LAMB2):c.3595C>T (p.Arg1199Ter) rs754597019 0.00002
NM_002292.4(LAMB2):c.1390_1391insA (p.Arg464fs) rs1560075930 0.00001
NM_002292.4(LAMB2):c.1564del (p.Cys522fs) rs1377725272 0.00001
NM_002292.4(LAMB2):c.1648C>T (p.Arg550Ter) rs1218889239 0.00001
NM_002292.4(LAMB2):c.4201del (p.Ser1401fs) rs754137583 0.00001
NM_002292.4(LAMB2):c.440A>G (p.His147Arg) rs387906644 0.00001
NM_002292.4(LAMB2):c.4573C>T (p.Gln1525Ter) rs376983109 0.00001
NM_002292.4(LAMB2):c.4762C>T (p.Gln1588Ter) rs775456607 0.00001
NM_002292.4(LAMB2):c.4804del (p.Gln1602fs) rs769399002 0.00001
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp) rs121912488 0.00001
NC_000003.12:g.(?_49121216)_(49533209_?)del
NM_002292.3(LAMB2):c.1037_1038del rs1170845795
NM_002292.3(LAMB2):c.[1307delG];[3798-1G>C]
NM_002292.4(LAMB2):c.1122T>A (p.Cys374Ter) rs121912490
NM_002292.4(LAMB2):c.1241_1242dup (p.Met415fs) rs1367444910
NM_002292.4(LAMB2):c.1276del (p.His426fs) rs2107643346
NM_002292.4(LAMB2):c.1405+1G>A
NM_002292.4(LAMB2):c.1934dup (p.Gly646fs) rs750538204
NM_002292.4(LAMB2):c.2018+2T>C
NM_002292.4(LAMB2):c.2067C>G (p.Tyr689Ter) rs121912489
NM_002292.4(LAMB2):c.2249dup (p.His750fs)
NM_002292.4(LAMB2):c.2494C>T (p.Gln832Ter)
NM_002292.4(LAMB2):c.2884+1del
NM_002292.4(LAMB2):c.3015del (p.Gln1006fs) rs1560072794
NM_002292.4(LAMB2):c.3094C>T (p.Arg1032Ter)
NM_002292.4(LAMB2):c.3218del (p.Gly1073fs)
NM_002292.4(LAMB2):c.3251G>A (p.Trp1084Ter)
NM_002292.4(LAMB2):c.3328-1G>C
NM_002292.4(LAMB2):c.3477_3483del (p.Gly1160fs) rs1357326383
NM_002292.4(LAMB2):c.3517dup (p.Cys1173fs)
NM_002292.4(LAMB2):c.3690_3697del (p.Ser1230fs)
NM_002292.4(LAMB2):c.3882_3892del (p.Asn1294fs) rs2045374891
NM_002292.4(LAMB2):c.4198_4199del (p.Leu1400fs)
NM_002292.4(LAMB2):c.4510_4552del (p.Gln1504fs) rs2045352880
NM_002292.4(LAMB2):c.4773dup (p.Arg1592fs) rs1553776921
NM_002292.4(LAMB2):c.4806_4807del (p.Lys1603fs)
NM_002292.4(LAMB2):c.5258dup (p.Glu1754fs) rs1560063136
NM_002292.4(LAMB2):c.752_756dup (p.His253fs)

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