ClinVar Miner

List of variants in gene PDSS2 studied for Coenzyme Q10 deficiency, primary, 3

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_020381.4(PDSS2):c.876+48C>T rs3734677 0.16221
NM_020381.4(PDSS2):c.431+17C>T rs192411971 0.00141
NM_020381.4(PDSS2):c.667G>A (p.Val223Ile) rs35555197 0.00130
NM_020381.4(PDSS2):c.1009-14C>G rs188095740 0.00084
NM_020381.4(PDSS2):c.877-20C>T rs138097933 0.00043
NM_020381.4(PDSS2):c.1046G>A (p.Arg349Gln) rs201388841 0.00027
NM_020381.4(PDSS2):c.702+16G>A rs200017192 0.00012
NM_020381.4(PDSS2):c.81G>A (p.Pro27=) rs754281828 0.00010
NM_020381.4(PDSS2):c.275A>C (p.His92Pro) rs143549737 0.00008
NM_020381.4(PDSS2):c.1002C>T (p.Ile334=) rs375546963 0.00006
NM_020381.4(PDSS2):c.1008+17C>T rs760414222 0.00006
NM_020381.4(PDSS2):c.1096C>T (p.Arg366Cys) rs370257390 0.00006
NM_020381.4(PDSS2):c.1003G>A (p.Gly335Arg) rs17853951 0.00005
NM_020381.4(PDSS2):c.50C>T (p.Ser17Leu) rs373021095 0.00005
NM_020381.4(PDSS2):c.382G>A (p.Val128Met) rs201645466 0.00003
NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu) rs118203956 0.00002
NM_020381.4(PDSS2):c.348G>T (p.Val116=) rs779485875 0.00002
NM_020381.4(PDSS2):c.602A>G (p.Asn201Ser) rs1476658817 0.00002
NM_020381.4(PDSS2):c.488G>A (p.Arg163His) rs142617068 0.00001
NM_020381.4(PDSS2):c.500A>G (p.Asn167Ser) rs201218141 0.00001
NM_020381.4(PDSS2):c.700A>G (p.Lys234Glu) rs372737420 0.00001
NM_020381.4(PDSS2):c.737C>T (p.Thr246Ile) rs148107195 0.00001
NM_020381.4(PDSS2):c.964C>T (p.Gln322Ter) rs118203955 0.00001
NM_020381.4(PDSS2):c.1030G>T (p.Asp344Tyr)
NM_020381.4(PDSS2):c.1041G>A (p.Lys347=)
NM_020381.4(PDSS2):c.1042-1G>A
NM_020381.4(PDSS2):c.1044G>T (p.Leu348Phe)
NM_020381.4(PDSS2):c.1045C>T (p.Arg349Ter) rs370370070
NM_020381.4(PDSS2):c.1070G>T (p.Gly357Val)
NM_020381.4(PDSS2):c.1134C>T (p.Ser378=) rs543231659
NM_020381.4(PDSS2):c.1151C>A (p.Ala384Asp) rs1236270228
NM_020381.4(PDSS2):c.1154G>A (p.Arg385Lys)
NM_020381.4(PDSS2):c.1154G>C (p.Arg385Thr)
NM_020381.4(PDSS2):c.1169A>G (p.Asn390Ser)
NM_020381.4(PDSS2):c.1189A>G (p.Arg397Gly)
NM_020381.4(PDSS2):c.1190_1191del (p.Arg397fs) rs782439454
NM_020381.4(PDSS2):c.129dup (p.Lys44fs) rs1782160930
NM_020381.4(PDSS2):c.183dup (p.Tyr62fs)
NM_020381.4(PDSS2):c.277C>T (p.Pro93Ser) rs143121266
NM_020381.4(PDSS2):c.322A>C (p.Ser108Arg)
NM_020381.4(PDSS2):c.35G>A (p.Arg12His)
NM_020381.4(PDSS2):c.401_402del (p.Asn134fs)
NM_020381.4(PDSS2):c.410T>C (p.Met137Thr)
NM_020381.4(PDSS2):c.428C>T (p.Ser143Leu)
NM_020381.4(PDSS2):c.439A>T (p.Ser147Cys)
NM_020381.4(PDSS2):c.526G>C (p.Gly176Arg)
NM_020381.4(PDSS2):c.538G>C (p.Asp180His)
NM_020381.4(PDSS2):c.61C>T (p.Arg21Cys)
NM_020381.4(PDSS2):c.630G>A (p.Lys210=)
NM_020381.4(PDSS2):c.703-18_703-17delinsAA
NM_020381.4(PDSS2):c.713T>C (p.Ile238Thr)
NM_020381.4(PDSS2):c.734C>T (p.Ser245Leu)
NM_020381.4(PDSS2):c.740G>A (p.Trp247Ter)
NM_020381.4(PDSS2):c.76T>G (p.Ser26Ala)
NM_020381.4(PDSS2):c.836T>C (p.Met279Thr)
NM_020381.4(PDSS2):c.837G>A (p.Met279Ile) rs753476156
NM_020381.4(PDSS2):c.875A>G (p.Lys292Arg)
NM_020381.4(PDSS2):c.877-6T>A
NM_020381.4(PDSS2):c.914C>T (p.Thr305Ile)
NM_020381.4(PDSS2):c.988T>C (p.Trp330Arg)

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