ClinVar Miner

List of variants reported as likely pathogenic by Department of Genetics,Fundacion Jimenez Diaz University Hospital

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Total variants: 7
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NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys) rs727503824
NM_016247.4(IMPG2):c.2872A>G (p.Ser958Gly)
NM_020843.3(SCAPER):c.1859_1861del (p.Glu620del) rs1395475624
NM_020843.4(SCAPER):c.3656G>A (p.Ser1219Asn) rs1305542291
NM_024649.5(BBS1):c.1205T>C (p.Leu402Pro)
NM_206933.4(USH2A):c.7067A>G (p.Asn2356Ser)

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