ClinVar Miner

List of variants in gene combination HMCN1, LOC129388665 reported as likely benign for Age related macular degeneration 1

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_031935.3(HMCN1):c.15011C>T (p.Thr5004Ile) rs114629728 0.00449
NM_031935.3(HMCN1):c.15010A>T (p.Thr5004Ser) rs114364265 0.00448
NM_031935.3(HMCN1):c.15010_15011delinsTT (p.Thr5004Phe) rs794728017

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