ClinVar Miner

List of variants reported as pathogenic for Patterned macular dystrophy 2 by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001903.5(CTNNA1):c.1293T>G (p.Ile431Met)	rs755215402
NM_001903.5(CTNNA1):c.919G>A (p.Glu307Lys)	rs869320697
NM_001903.5(CTNNA1):c.953T>C (p.Leu318Ser)	rs869320696

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