ClinVar Miner

List of variants in gene OPLAH reported by Fulgent Genetics, Fulgent Genetics

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Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_017570.5(OPLAH):c.3721-20del rs148937107 0.03336
NM_017570.5(OPLAH):c.3571C>T (p.Leu1191=) rs61740339 0.00958
NM_017570.5(OPLAH):c.3265G>A (p.Val1089Ile) rs185836803 0.00867
NM_017570.5(OPLAH):c.3720+8C>T rs374770909 0.00674
NM_017570.5(OPLAH):c.402G>A (p.Leu134=) rs200748510 0.00423
NM_017570.5(OPLAH):c.471G>A (p.Thr157=) rs145079111 0.00324
NM_017570.5(OPLAH):c.2473G>A (p.Gly825Arg) rs11777194 0.00176
NM_017570.5(OPLAH):c.949+12G>A rs142819774 0.00156
NM_017570.5(OPLAH):c.2964C>T (p.Asp988=) rs186192116 0.00142
NM_017570.5(OPLAH):c.2346G>T (p.Leu782=) rs370115329 0.00121
NM_017570.5(OPLAH):c.2097-8C>T rs376189869 0.00099
NM_017570.5(OPLAH):c.2096+8G>A rs372984548 0.00053
NM_017570.5(OPLAH):c.2880T>G (p.Ala960=) rs372144482 0.00047
NM_017570.5(OPLAH):c.158G>A (p.Arg53His) rs370049811 0.00042
NM_017570.5(OPLAH):c.3821A>T (p.Glu1274Val) rs202100905 0.00027
NM_017570.5(OPLAH):c.573C>G (p.Leu191=) rs375794631 0.00025
NM_017570.5(OPLAH):c.2160C>T (p.Ser720=) rs373638784 0.00020
NM_017570.5(OPLAH):c.714C>T (p.Asp238=) rs372974283 0.00014
NM_017570.5(OPLAH):c.3655C>T (p.Leu1219=) rs373169020 0.00011
NM_017570.5(OPLAH):c.430C>T (p.Arg144Cys) rs782533601 0.00011
NM_017570.5(OPLAH):c.1754C>T (p.Thr585Met) rs370157218 0.00010
NM_017570.5(OPLAH):c.3843T>C (p.Tyr1281=) rs201482072 0.00010
NM_017570.5(OPLAH):c.1497C>T (p.Ile499=) rs369897941 0.00008
NM_017570.5(OPLAH):c.1850T>C (p.Met617Thr) rs370801470 0.00008
NM_017570.5(OPLAH):c.1972C>T (p.Arg658Trp) rs782702109 0.00008
NM_017570.5(OPLAH):c.272G>A (p.Arg91Gln) rs554854985 0.00007
NM_017570.5(OPLAH):c.2273G>A (p.Arg758His) rs200773486 0.00006
NM_017570.5(OPLAH):c.313_316del (p.Arg105fs) rs782750497 0.00006
NM_017570.5(OPLAH):c.1030G>A (p.Ala344Thr) rs199914741 0.00005
NM_017570.5(OPLAH):c.212C>G (p.Ser71Cys) rs782130905 0.00005
NM_017570.5(OPLAH):c.271C>T (p.Arg91Trp) rs575947480 0.00005
NM_017570.5(OPLAH):c.2512-6C>T rs532077880 0.00004
NM_017570.5(OPLAH):c.3156C>T (p.Gly1052=) rs782559583 0.00003
NM_017570.5(OPLAH):c.646G>A (p.Val216Met) rs374238208 0.00003
NM_017570.5(OPLAH):c.1340C>T (p.Pro447Leu) rs782808832 0.00002
NM_017570.5(OPLAH):c.2230C>T (p.Arg744Cys) rs371837669 0.00002
NM_017570.5(OPLAH):c.1075C>T (p.Arg359Cys) rs568623659 0.00001
NM_017570.5(OPLAH):c.1265C>T (p.Ala422Val) rs375526531 0.00001
NM_017570.5(OPLAH):c.136G>A (p.Ala46Thr) rs781819330 0.00001
NM_017570.5(OPLAH):c.1437C>T (p.Asp479=) rs782608385 0.00001
NM_017570.5(OPLAH):c.1909C>T (p.Arg637Trp) rs782125024 0.00001
NM_017570.5(OPLAH):c.2654A>G (p.Lys885Arg) rs374235442 0.00001
NM_017570.5(OPLAH):c.3016C>T (p.Gln1006Ter) rs782331682 0.00001
NM_017570.5(OPLAH):c.587+1G>A rs1272869557 0.00001
NM_017570.5(OPLAH):c.816C>T (p.Gly272=) rs533428247 0.00001
NM_017570.5(OPLAH):c.1385A>G (p.Asn462Ser) rs782662415
NM_017570.5(OPLAH):c.157C>T (p.Arg53Cys) rs200381383
NM_017570.5(OPLAH):c.203C>T (p.Pro68Leu) rs540750311
NM_017570.5(OPLAH):c.2076C>A (p.Cys692Ter) rs781977956
NM_017570.5(OPLAH):c.2260C>T (p.Arg754Cys) rs201623019
NM_017570.5(OPLAH):c.2770C>T (p.Arg924Cys) rs147874057
NM_017570.5(OPLAH):c.3721-11dup rs782568024
NM_017570.5(OPLAH):c.3721-16C>G rs566592895
NM_017570.5(OPLAH):c.3721-20_3721-18del rs782715961
NM_017570.5(OPLAH):c.960G>T (p.Thr320=) rs375010602

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