ClinVar Miner

List of variants in gene HMCN1 reported as uncertain significance for Macular degeneration

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_031935.3(HMCN1):c.16773G>A (p.Val5591=) rs145772673 0.00016
NM_031935.3(HMCN1):c.15439+14dup rs759693498 0.00011
NM_031935.3(HMCN1):c.1406C>A (p.Thr469Lys) rs200897962 0.00008
NM_031935.3(HMCN1):c.16754A>C (p.Glu5585Ala) rs771757920 0.00001
NM_031935.3(HMCN1):c.7589C>G (p.Ser2530Cys) rs573119781 0.00001
NM_031935.3(HMCN1):c.*656TAA[3] rs886045695
NM_031935.3(HMCN1):c.-13dup rs752517345
NM_031935.3(HMCN1):c.-25dup rs545770705
NM_031935.3(HMCN1):c.14609-6dup rs759638529
NM_031935.3(HMCN1):c.16032ACA[1] (p.Gln5345del) rs780673178

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