ClinVar Miner

List of variants in gene LAMA3 reported as likely pathogenic by Counsyl

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Gene type:
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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_198129.4(LAMA3):c.8044-1G>T rs141789403 0.00003
NM_198129.4(LAMA3):c.5113-2A>G rs1057516475 0.00001
NM_198129.4(LAMA3):c.7158+1G>A rs1057516279 0.00001
NM_198129.4(LAMA3):c.8203C>T (p.Arg2735Ter) rs774133746 0.00001
NM_198129.4(LAMA3):c.8295+2T>C rs1555743457 0.00001
NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter) rs772038362 0.00001
NM_198129.4(LAMA3):c.5049del (p.Cys1684fs) rs752030611
NM_198129.4(LAMA3):c.5112+1G>A rs1057517023
NM_198129.4(LAMA3):c.5112+1G>T rs1057517023
NM_198129.4(LAMA3):c.5112+2T>G rs1555721815
NM_198129.4(LAMA3):c.5152del (p.Cys1718fs) rs1057517235
NM_198129.4(LAMA3):c.5197dup (p.Ala1733fs) rs1555724066
NM_198129.4(LAMA3):c.5205del (p.Cys1736fs) rs1057517367
NM_198129.4(LAMA3):c.5221A>G (p.Ser1741Gly) rs1555724108
NM_198129.4(LAMA3):c.5411-2_5411-1delinsGA rs1555728297
NM_198129.4(LAMA3):c.5461+1G>A rs1555728319
NM_198129.4(LAMA3):c.5594_5597del (p.Thr1865fs) rs1555728701
NM_198129.4(LAMA3):c.5688dup (p.Asp1897Ter) rs1057517314
NM_198129.4(LAMA3):c.5782C>T (p.Gln1928Ter) rs1555730209
NM_198129.4(LAMA3):c.5836+2T>C rs1057516584
NM_198129.4(LAMA3):c.5980_5981del (p.Glu1993_Ala1994insTer) rs1057516688
NM_198129.4(LAMA3):c.6266C>G (p.Ser2089Ter) rs1555732032
NM_198129.4(LAMA3):c.6318+2T>C rs1057516280
NM_198129.4(LAMA3):c.6377_6380del (p.Val2126fs) rs1555732431
NM_198129.4(LAMA3):c.6472G>T (p.Glu2158Ter) rs1555732528
NM_198129.4(LAMA3):c.6505del (p.Val2169fs) rs1057516476
NM_198129.4(LAMA3):c.6567del (p.Glu2190fs) rs1555732939
NM_198129.4(LAMA3):c.6708_6711delinsCCT (p.Lys2236fs) rs1057517196
NM_198129.4(LAMA3):c.6719-2A>G rs1555734356
NM_198129.4(LAMA3):c.6836-2A>G rs1555734513
NM_198129.4(LAMA3):c.7054A>T (p.Lys2352Ter) rs765104557
NM_198129.4(LAMA3):c.7075C>T (p.Gln2359Ter) rs1555735252
NM_198129.4(LAMA3):c.7165del (p.Val2389fs) rs1555736532
NM_198129.4(LAMA3):c.7219del (p.Leu2407fs) rs1555736608
NM_198129.4(LAMA3):c.7343_7346del (p.Tyr2448fs) rs1555737473
NM_198129.4(LAMA3):c.7352del (p.Met2451fs) rs1555737509
NM_198129.4(LAMA3):c.7461_7481+17del rs1555737629
NM_198129.4(LAMA3):c.7489C>T (p.Gln2497Ter) rs1555737779
NM_198129.4(LAMA3):c.7677del (p.Gly2560fs) rs1057516605
NM_198129.4(LAMA3):c.7820del (p.Gly2607fs) rs1356353167
NM_198129.4(LAMA3):c.7828C>T (p.Arg2610Ter) rs768415785
NM_198129.4(LAMA3):c.8004_8005del (p.Gly2669fs) rs1303193834
NM_198129.4(LAMA3):c.8043+2T>C rs1555740717
NM_198129.4(LAMA3):c.8081G>A (p.Trp2694Ter) rs1555740945
NM_198129.4(LAMA3):c.8102del (p.Asn2701fs) rs1555740963
NM_198129.4(LAMA3):c.8292G>A (p.Trp2764Ter) rs1555743454
NM_198129.4(LAMA3):c.8436G>A (p.Trp2812Ter) rs1057516764
NM_198129.4(LAMA3):c.8576+1G>A rs1555744805
NM_198129.4(LAMA3):c.8576+2T>G rs1555744812
NM_198129.4(LAMA3):c.8626_8627insC (p.Lys2876fs) rs1555745207
NM_198129.4(LAMA3):c.8664_8673dup (p.Phe2892fs) rs1555745263
NM_198129.4(LAMA3):c.8708+1G>T rs754558574
NM_198129.4(LAMA3):c.8708+2T>G rs1555745317
NM_198129.4(LAMA3):c.8786T>G (p.Leu2929Ter) rs1401574168
NM_198129.4(LAMA3):c.8827del (p.Arg2943fs) rs1555746079
NM_198129.4(LAMA3):c.8891dup (p.Arg2965fs) rs34754160
NM_198129.4(LAMA3):c.8971dup (p.Asp2991fs) rs1057517211
NM_198129.4(LAMA3):c.9114T>G (p.Tyr3038Ter) rs1555751423
NM_198129.4(LAMA3):c.9176del (p.Ser3059fs) rs1555751482
NM_198129.4(LAMA3):c.9202del (p.Trp3068fs) rs1555751529
NM_198129.4(LAMA3):c.9352-1G>C rs1057517272
NM_198129.4(LAMA3):c.9400del (p.Asp3134fs) rs1555754450
NM_198129.4(LAMA3):c.9512-1G>T rs1555754655
NM_198129.4(LAMA3):c.9575del (p.Thr3192fs) rs1057517440
NM_198129.4(LAMA3):c.9736+1G>C rs1234435123

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