ClinVar Miner

List of variants studied for Achromatopsia 7

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Total variants: 17
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HGVS dbSNP
NM_007348.3:c.355_356dupG
NM_007348.4(ATF6):c.1110dup (p.Val371fs) rs797045174
NM_007348.4(ATF6):c.1187+5G>C rs761129859
NM_007348.4(ATF6):c.1190_1191insTTTTT (p.Met397fs) rs1571184566
NM_007348.4(ATF6):c.1191G>T (p.Met397Ile) rs1285628089
NM_007348.4(ATF6):c.1434-3T>A rs2257107
NM_007348.4(ATF6):c.1533+1G>C rs797045172
NM_007348.4(ATF6):c.1699T>A (p.Tyr567Asn) rs796065053
NM_007348.4(ATF6):c.1784del (p.Leu595fs) rs1558022158
NM_007348.4(ATF6):c.199A>G (p.Met67Val) rs1058405
NM_007348.4(ATF6):c.353del (p.Pro118fs) rs797045171
NM_007348.4(ATF6):c.355dup (p.Glu119Glyfs) rs869320751
NM_007348.4(ATF6):c.511del (p.Ile171fs) rs1571134523
NM_007348.4(ATF6):c.709C>T (p.Gln237Ter) rs1571143590
NM_007348.4(ATF6):c.797dup (p.Pro266_Asn267insTer) rs797045173
NM_007348.4(ATF6):c.82+5G>T rs797045170
NM_007348.4(ATF6):c.970C>T (p.Arg324Cys) rs761357250

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