ClinVar Miner

List of variants reported as likely pathogenic by Research Unit for Molecular Medicine, Department for Clinical Medicine, Aarhus University

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001002030.2(ECHDC1):c.389T>C (p.Met130Thr)	rs368710940	0.00009
NM_001002030.2(ECHDC1):c.221-4_222delinsTA	rs1783424526
NM_001002030.2(ECHDC1):c.498-40AG[2]	rs770887258

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