ClinVar Miner

List of variants reported for not provided by Kariminejad - Najmabadi Pathology & Genetics Center

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Total variants: 5
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HGVS dbSNP
NM_000070.3(CAPN3):c.1292dup (p.Ser432fs) rs1555421856
NM_000089.3(COL1A2):c.596G>A (p.Gly199Asp) rs1554395833
NM_000414.4(HSD17B4):c.623-1G>T rs1554064083
NM_001168272.1(ITPR1):c.3867C>G (p.His1289Gln) rs556943368
NM_004006.2(DMD):c.2804-1del rs1557374667

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