ClinVar Miner

List of variants reported as likely pathogenic for Vitelliform macular dystrophy type 2

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Total variants: 17
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HGVS dbSNP
NM_000322.4(PRPH2):c.628C>T (p.Pro210Ser) rs61755797
NM_004183.3(BEST1):c.140G>A (p.Arg47His) rs28940278
NM_004183.3(BEST1):c.241G>A (p.Val81Met) rs1555098634
NM_004183.3(BEST1):c.253T>C (p.Tyr85His) rs28940274
NM_004183.3(BEST1):c.26T>G (p.Val9Gly) rs281865205
NM_004183.3(BEST1):c.535A>G (p.Asn179Asp) rs1555099968
NM_004183.3(BEST1):c.652C>T (p.Arg218Cys) rs281865238
NM_004183.3(BEST1):c.728C>T (p.Ala243Val) rs28940570
NM_004183.3(BEST1):c.874G>C (p.Glu292Gln) rs886039311
NM_004183.3(BEST1):c.889C>T (p.Pro297Ser) rs1805143
NM_004183.3(BEST1):c.89A>G (p.Lys30Arg) rs281865218
NM_004183.3:c.1415delT
NM_004183.4(BEST1):c.287A>G (p.Gln96Arg)
NM_004183.4(BEST1):c.295A>C (p.Asn99His)
NM_004183.4(BEST1):c.86A>G (p.Tyr29Cys)
NM_004183.4(BEST1):c.915T>G (p.Phe305Leu)
NM_004183.4(BEST1):c.936C>A (p.Asp312Glu)

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