ClinVar Miner

List of variants reported as likely pathogenic by Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd

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Total variants: 7
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HGVS dbSNP
NM_000094.3(COL7A1):c.3504del (p.Pro1168_Leu1169insTer) rs730880286
NM_000094.3(COL7A1):c.4980+1G>C rs730880285
NM_003005.4(SELP):c.775+1G>A rs730880284
NM_003803.3(MYOM1):c.1900+3A>C rs77613865
NM_004415.3(DSP):c.2131_2132delAG (p.Ser711Cysfs) rs587782927
NM_007294.3(BRCA1):c.4837_4838delinsGCC (p.Ser1613fs) rs730880287
NM_007294.3(BRCA1):c.5133del (p.Lys1711fs) rs730880288

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