ClinVar Miner

List of variants reported as pathogenic by CMT Laboratory, Bogazici University

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met) rs387906991 0.00003
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) rs140992482 0.00001
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810 0.00001
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930 0.00001
NM_181882.3(PRX):c.1102C>T (p.Arg368Ter) rs104894715 0.00001
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter) rs104894708 0.00001
NM_000166.6(GJB1):c.47A>T (p.His16Leu) rs1602348610
NM_000166.6(GJB1):c.518G>T (p.Cys173Phe) rs1602349535
NM_000399.5(EGR2):c.1142G>A (p.Arg381His) rs281865137
NM_005340.7(HINT1):c.368G>A (p.Trp123Ter) rs1580682390
NM_005340.7(HINT1):c.99del (p.Phe33fs) rs2149654884
NM_006096.4(NDRG1):c.237C>A (p.Tyr79Ter) rs199928197
NM_007289.4(MME):c.531del (p.Lys177fs) rs1190163112
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter) rs761035569
NM_018972.4(GDAP1):c.174_176delinsTGTG (p.Pro59fs) rs1586795216
NM_018972.4(GDAP1):c.786del (p.Phe263fs) rs1060500978
NM_024577.4(SH3TC2):c.1178-1G>A rs80338922
NM_024577.4(SH3TC2):c.1897del (p.Ala633fs) rs1064797314
NM_024577.4(SH3TC2):c.54dup (p.Lys19Ter) rs1580917136

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