ClinVar Miner

List of variants in gene MERTK reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter) rs541717028 0.00004
NM_006343.3(MERTK):c.2189+1G>T rs371956016 0.00004
NM_006343.3(MERTK):c.1605-2A>G rs730880273 0.00002
NM_006343.3(MERTK):c.345C>G (p.Cys115Trp) rs772421550 0.00002
NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser) rs527236084 0.00001
NM_006343.3(MERTK):c.154del (p.Ser52fs) rs1371550108 0.00001
NM_006343.3(MERTK):c.1672C>T (p.Arg558Ter) rs774755041 0.00001
NM_006343.3(MERTK):c.1783dup (p.Glu595fs) rs1337364058 0.00001
NM_006343.3(MERTK):c.1787-2A>T rs978833430 0.00001
NM_006343.3(MERTK):c.1951C>T (p.Arg651Ter) rs119489105 0.00001
NM_006343.3(MERTK):c.225del (p.Gly76fs) rs527236083 0.00001
GRCh37/hg19 2q13(chr2:112690808-112809020)x1
NC_000002.11:g.(?_112656313)_(112705164_?)del
NC_000002.11:g.(?_112656313)_(112733049_?)del
NC_000002.11:g.(?_112656313)_(112786441_?)del
NC_000002.11:g.(?_112702517)_(112786441_?)del
NC_000002.11:g.(?_112722748)_(112740590_?)del
NC_000002.11:g.(?_112740399)_(112740590_?)del
NC_000002.11:g.(?_112751808)_(112752001_?)del
NC_000002.11:g.(?_112751828)_(112753086_?)del
NC_000002.11:g.(?_112761461)_(112767663_?)dup
NC_000002.11:g.(?_112778979)_(112779178_?)del
NC_000002.11:g.(?_112779835)_(112780119_?)del
NC_000002.12:g.(?_111944960)_(112022542_?)del
NC_000002.12:g.(?_111944960)_(112028864_?)del
NC_000002.12:g.(?_112021422)_(112021581_?)del
NM_006343.3(MERTK):c.1186G>T (p.Glu396Ter)
NM_006343.3(MERTK):c.1192dup (p.Ser398fs) rs2104741154
NM_006343.3(MERTK):c.1301_1302del (p.Glu434fs) rs776644374
NM_006343.3(MERTK):c.14del (p.Pro5fs)
NM_006343.3(MERTK):c.1724del (p.Asn575fs) rs1187387547
NM_006343.3(MERTK):c.1802_1808del (p.Val601fs)
NM_006343.3(MERTK):c.1867+2_1867+3del rs2104407571
NM_006343.3(MERTK):c.1868-1G>A rs2104411620
NM_006343.3(MERTK):c.1868T>A (p.Leu623Ter) rs780007963
NM_006343.3(MERTK):c.1935_1960+9del
NM_006343.3(MERTK):c.2070_2074del (p.Gly691fs) rs1573638426
NM_006343.3(MERTK):c.2079+2T>G rs1677065097
NM_006343.3(MERTK):c.2179C>T (p.Arg727Ter) rs746238212
NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln) rs878853354
NM_006343.3(MERTK):c.2187C>A (p.Cys729Ter) rs2104421764
NM_006343.3(MERTK):c.2211_2214del (p.Cys738fs) rs1487540503
NM_006343.3(MERTK):c.2214del (p.Cys738fs) rs886039422
NM_006343.3(MERTK):c.2228del (p.Gly743fs) rs1677347565
NM_006343.3(MERTK):c.2323C>T (p.Arg775Ter) rs387907314
NM_006343.3(MERTK):c.2352G>A (p.Trp784Ter) rs2104424446
NM_006343.3(MERTK):c.2377del (p.Glu792_Ile793insTer)
NM_006343.3(MERTK):c.2389G>T (p.Gly797Ter)
NM_006343.3(MERTK):c.2390del (p.Gly797fs) rs1677368092
NM_006343.3(MERTK):c.2530C>T (p.Arg844Cys) rs746291728
NM_006343.3(MERTK):c.2567_2568del (p.Lys856fs) rs1677514061
NM_006343.3(MERTK):c.2576_2579del (p.Glu859fs)
NM_006343.3(MERTK):c.263C>G (p.Ser88Ter)
NM_006343.3(MERTK):c.267del (p.Lys89fs) rs2104686582
NM_006343.3(MERTK):c.280_281del (p.Leu94fs)
NM_006343.3(MERTK):c.296_297del (p.Thr99fs)
NM_006343.3(MERTK):c.349_352del (p.Ile117fs)
NM_006343.3(MERTK):c.436_437del (p.Gln146fs)
NM_006343.3(MERTK):c.505_508del (p.Asp169fs)
NM_006343.3(MERTK):c.584-1_584dup
NM_006343.3(MERTK):c.721C>T (p.Gln241Ter)
NM_006343.3(MERTK):c.912G>A (p.Trp304Ter)
NM_006343.3(MERTK):c.938del (p.Pro313fs)
Single allele

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