ClinVar Miner

List of variants in gene LAMA2 reported as likely pathogenic by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
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Total variants: 8
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NM_000426.3(LAMA2):c.1027+1G>A rs1064797327
NM_000426.3(LAMA2):c.4717+1G>T rs1131691660
NM_000426.3(LAMA2):c.5562+5G>C rs771046502
NM_000426.3(LAMA2):c.6985_6988del (p.Thr2329fs) rs1064797328
NM_000426.3(LAMA2):c.9211+6T>C rs201375881
NM_000426.4(LAMA2):c.3172A>T (p.Lys1058Ter) rs1583447808
NM_000426.4(LAMA2):c.3667del (p.Asp1222_Leu1223insTer)
NM_000426.4(LAMA2):c.5195dup (p.Asn1732fs) rs747567057

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